Name: rs71152852
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs71152852

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:17233599-17233621 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / d…
del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₃=0.0000 (0/1278, ALFA)
del(A)₁₂=0.0000 (0/1278, ALFA)
del(A)₁₁=0.0000 (0/1278, ALFA) (+ 13 more)
del(A)₁₀=0.0000 (0/1278, ALFA)
del(A)₈=0.0000 (0/1278, ALFA)
del(A)₇=0.0000 (0/1278, ALFA)
del(A)₆=0.0000 (0/1278, ALFA)
del(A)₄=0.0000 (0/1278, ALFA)
delAAA=0.0000 (0/1278, ALFA)
delAA=0.0000 (0/1278, ALFA)
delA=0.0000 (0/1278, ALFA)
dupA=0.0000 (0/1278, ALFA)
dupAA=0.0000 (0/1278, ALFA)
dupAAA=0.0000 (0/1278, ALFA)
dup(A)₄=0.0000 (0/1278, ALFA)
dup(A)₆=0.0000 (0/1278, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FLCN : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	1278	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	716	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	456	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	18	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	438	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	16	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	44	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	40	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	1278	(A)₂₃=1.0000	del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	716	(A)₂₃=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	African	Sub	456	(A)₂₃=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	44	(A)₂₃=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Other	Sub	40	(A)₂₃=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	16	(A)₂₃=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	4	(A)₂₃=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Asian	Sub	2	(A)₂₃=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₆=0.0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 17	NC_000017.11:g.17233609_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233610_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233611_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233612_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233614_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233615_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233616_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233617_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233618_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233619_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233620_17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233621del
GRCh38.p14 chr 17	NC_000017.11:g.17233621dup
GRCh38.p14 chr 17	NC_000017.11:g.17233620_17233621dup
GRCh38.p14 chr 17	NC_000017.11:g.17233619_17233621dup
GRCh38.p14 chr 17	NC_000017.11:g.17233618_17233621dup
GRCh38.p14 chr 17	NC_000017.11:g.17233617_17233621dup
GRCh38.p14 chr 17	NC_000017.11:g.17233616_17233621dup
GRCh38.p14 chr 17	NC_000017.11:g.17233614_17233621dup
GRCh37.p13 chr 17	NC_000017.10:g.17136923_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136924_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136925_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136926_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136928_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136929_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136930_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136931_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136932_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136933_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136934_17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136935del
GRCh37.p13 chr 17	NC_000017.10:g.17136935dup
GRCh37.p13 chr 17	NC_000017.10:g.17136934_17136935dup
GRCh37.p13 chr 17	NC_000017.10:g.17136933_17136935dup
GRCh37.p13 chr 17	NC_000017.10:g.17136932_17136935dup
GRCh37.p13 chr 17	NC_000017.10:g.17136931_17136935dup
GRCh37.p13 chr 17	NC_000017.10:g.17136930_17136935dup
GRCh37.p13 chr 17	NC_000017.10:g.17136928_17136935dup
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8578_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8579_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8580_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8581_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8583_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8584_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8585_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8586_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8587_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8588_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8589_8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8590del
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8590dup
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8589_8590dup
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8588_8590dup
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8587_8590dup
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8586_8590dup
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8585_8590dup
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8583_8590dup

Gene: FLCN, folliculin (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FLCN transcript variant 3	NM_001353229.2:c.-227-710… NM_001353229.2:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant 4	NM_001353230.2:c.-510-710… NM_001353230.2:c.-510-710_-510-698del	N/A	Intron Variant
FLCN transcript variant 5	NM_001353231.2:c.-426-710… NM_001353231.2:c.-426-710_-426-698del	N/A	Intron Variant
FLCN transcript variant 2	NM_144606.7:c.-227-710_-2… NM_144606.7:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant 1	NM_144997.7:c.-227-710_-2… NM_144997.7:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant X1	XM_011523714.4:c.-227-710… XM_011523714.4:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant X7	XM_011523718.4:c.-138-710… XM_011523718.4:c.-138-710_-138-698del	N/A	Intron Variant
FLCN transcript variant X17	XM_011523721.4:c.-138-710… XM_011523721.4:c.-138-710_-138-698del	N/A	Intron Variant
FLCN transcript variant X2	XM_017024305.3:c.-426-710… XM_017024305.3:c.-426-710_-426-698del	N/A	Intron Variant
FLCN transcript variant X12	XM_017024308.2:c.-426-710… XM_017024308.2:c.-426-710_-426-698del	N/A	Intron Variant
FLCN transcript variant X14	XM_017024309.3:c.-227-710… XM_017024309.3:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant X3	XM_047435531.1:c.-227-710… XM_047435531.1:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant X4	XM_047435532.1:c.-1896-71… XM_047435532.1:c.-1896-710_-1896-698del	N/A	Intron Variant
FLCN transcript variant X5	XM_047435533.1:c.-887-710… XM_047435533.1:c.-887-710_-887-698del	N/A	Intron Variant
FLCN transcript variant X6	XM_047435534.1:c.-971-710… XM_047435534.1:c.-971-710_-971-698del	N/A	Intron Variant
FLCN transcript variant X8	XM_047435535.1:c.-227-710… XM_047435535.1:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant X9	XM_047435536.1:c.-227-710… XM_047435536.1:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant X10	XM_047435537.1:c.-1896-71… XM_047435537.1:c.-1896-710_-1896-698del	N/A	Intron Variant
FLCN transcript variant X11	XM_047435538.1:c.-138-710… XM_047435538.1:c.-138-710_-138-698del	N/A	Intron Variant
FLCN transcript variant X15	XM_047435540.1:c.-227-710… XM_047435540.1:c.-227-710_-227-698del	N/A	Intron Variant
FLCN transcript variant X16	XM_047435541.1:c.-138-710… XM_047435541.1:c.-138-710_-138-698del	N/A	Intron Variant
FLCN transcript variant X18	XM_047435542.1:c.-1896-71… XM_047435542.1:c.-1896-710_-1896-698del	N/A	Intron Variant
FLCN transcript variant X13	XM_047435539.1:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₃=	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₈
GRCh38.p14 chr 17	NC_000017.11:g.17233599_17233621=	NC_000017.11:g.17233609_17233621del	NC_000017.11:g.17233610_17233621del	NC_000017.11:g.17233611_17233621del	NC_000017.11:g.17233612_17233621del	NC_000017.11:g.17233614_17233621del	NC_000017.11:g.17233615_17233621del	NC_000017.11:g.17233616_17233621del	NC_000017.11:g.17233617_17233621del	NC_000017.11:g.17233618_17233621del	NC_000017.11:g.17233619_17233621del	NC_000017.11:g.17233620_17233621del	NC_000017.11:g.17233621del	NC_000017.11:g.17233621dup	NC_000017.11:g.17233620_17233621dup	NC_000017.11:g.17233619_17233621dup	NC_000017.11:g.17233618_17233621dup	NC_000017.11:g.17233617_17233621dup	NC_000017.11:g.17233616_17233621dup	NC_000017.11:g.17233614_17233621dup
GRCh37.p13 chr 17	NC_000017.10:g.17136913_17136935=	NC_000017.10:g.17136923_17136935del	NC_000017.10:g.17136924_17136935del	NC_000017.10:g.17136925_17136935del	NC_000017.10:g.17136926_17136935del	NC_000017.10:g.17136928_17136935del	NC_000017.10:g.17136929_17136935del	NC_000017.10:g.17136930_17136935del	NC_000017.10:g.17136931_17136935del	NC_000017.10:g.17136932_17136935del	NC_000017.10:g.17136933_17136935del	NC_000017.10:g.17136934_17136935del	NC_000017.10:g.17136935del	NC_000017.10:g.17136935dup	NC_000017.10:g.17136934_17136935dup	NC_000017.10:g.17136933_17136935dup	NC_000017.10:g.17136932_17136935dup	NC_000017.10:g.17136931_17136935dup	NC_000017.10:g.17136930_17136935dup	NC_000017.10:g.17136928_17136935dup
FLCN RefSeqGene (LRG_325)	NG_008001.2:g.8568_8590=	NG_008001.2:g.8578_8590del	NG_008001.2:g.8579_8590del	NG_008001.2:g.8580_8590del	NG_008001.2:g.8581_8590del	NG_008001.2:g.8583_8590del	NG_008001.2:g.8584_8590del	NG_008001.2:g.8585_8590del	NG_008001.2:g.8586_8590del	NG_008001.2:g.8587_8590del	NG_008001.2:g.8588_8590del	NG_008001.2:g.8589_8590del	NG_008001.2:g.8590del	NG_008001.2:g.8590dup	NG_008001.2:g.8589_8590dup	NG_008001.2:g.8588_8590dup	NG_008001.2:g.8587_8590dup	NG_008001.2:g.8586_8590dup	NG_008001.2:g.8585_8590dup	NG_008001.2:g.8583_8590dup
FLCN transcript variant 3	NM_001353229.2:c.-227-698=	NM_001353229.2:c.-227-710_-227-698del	NM_001353229.2:c.-227-709_-227-698del	NM_001353229.2:c.-227-708_-227-698del	NM_001353229.2:c.-227-707_-227-698del	NM_001353229.2:c.-227-705_-227-698del	NM_001353229.2:c.-227-704_-227-698del	NM_001353229.2:c.-227-703_-227-698del	NM_001353229.2:c.-227-702_-227-698del	NM_001353229.2:c.-227-701_-227-698del	NM_001353229.2:c.-227-700_-227-698del	NM_001353229.2:c.-227-699_-227-698del	NM_001353229.2:c.-227-698del	NM_001353229.2:c.-227-698dup	NM_001353229.2:c.-227-699_-227-698dup	NM_001353229.2:c.-227-700_-227-698dup	NM_001353229.2:c.-227-701_-227-698dup	NM_001353229.2:c.-227-702_-227-698dup	NM_001353229.2:c.-227-703_-227-698dup	NM_001353229.2:c.-227-705_-227-698dup
FLCN transcript variant 4	NM_001353230.2:c.-510-698=	NM_001353230.2:c.-510-710_-510-698del	NM_001353230.2:c.-510-709_-510-698del	NM_001353230.2:c.-510-708_-510-698del	NM_001353230.2:c.-510-707_-510-698del	NM_001353230.2:c.-510-705_-510-698del	NM_001353230.2:c.-510-704_-510-698del	NM_001353230.2:c.-510-703_-510-698del	NM_001353230.2:c.-510-702_-510-698del	NM_001353230.2:c.-510-701_-510-698del	NM_001353230.2:c.-510-700_-510-698del	NM_001353230.2:c.-510-699_-510-698del	NM_001353230.2:c.-510-698del	NM_001353230.2:c.-510-698dup	NM_001353230.2:c.-510-699_-510-698dup	NM_001353230.2:c.-510-700_-510-698dup	NM_001353230.2:c.-510-701_-510-698dup	NM_001353230.2:c.-510-702_-510-698dup	NM_001353230.2:c.-510-703_-510-698dup	NM_001353230.2:c.-510-705_-510-698dup
FLCN transcript variant 5	NM_001353231.2:c.-426-698=	NM_001353231.2:c.-426-710_-426-698del	NM_001353231.2:c.-426-709_-426-698del	NM_001353231.2:c.-426-708_-426-698del	NM_001353231.2:c.-426-707_-426-698del	NM_001353231.2:c.-426-705_-426-698del	NM_001353231.2:c.-426-704_-426-698del	NM_001353231.2:c.-426-703_-426-698del	NM_001353231.2:c.-426-702_-426-698del	NM_001353231.2:c.-426-701_-426-698del	NM_001353231.2:c.-426-700_-426-698del	NM_001353231.2:c.-426-699_-426-698del	NM_001353231.2:c.-426-698del	NM_001353231.2:c.-426-698dup	NM_001353231.2:c.-426-699_-426-698dup	NM_001353231.2:c.-426-700_-426-698dup	NM_001353231.2:c.-426-701_-426-698dup	NM_001353231.2:c.-426-702_-426-698dup	NM_001353231.2:c.-426-703_-426-698dup	NM_001353231.2:c.-426-705_-426-698dup
FLCN transcript variant 2	NM_144606.5:c.-227-698=	NM_144606.5:c.-227-710_-227-698del	NM_144606.5:c.-227-709_-227-698del	NM_144606.5:c.-227-708_-227-698del	NM_144606.5:c.-227-707_-227-698del	NM_144606.5:c.-227-705_-227-698del	NM_144606.5:c.-227-704_-227-698del	NM_144606.5:c.-227-703_-227-698del	NM_144606.5:c.-227-702_-227-698del	NM_144606.5:c.-227-701_-227-698del	NM_144606.5:c.-227-700_-227-698del	NM_144606.5:c.-227-699_-227-698del	NM_144606.5:c.-227-698del	NM_144606.5:c.-227-698dup	NM_144606.5:c.-227-699_-227-698dup	NM_144606.5:c.-227-700_-227-698dup	NM_144606.5:c.-227-701_-227-698dup	NM_144606.5:c.-227-702_-227-698dup	NM_144606.5:c.-227-703_-227-698dup	NM_144606.5:c.-227-705_-227-698dup
FLCN transcript variant 2	NM_144606.7:c.-227-698=	NM_144606.7:c.-227-710_-227-698del	NM_144606.7:c.-227-709_-227-698del	NM_144606.7:c.-227-708_-227-698del	NM_144606.7:c.-227-707_-227-698del	NM_144606.7:c.-227-705_-227-698del	NM_144606.7:c.-227-704_-227-698del	NM_144606.7:c.-227-703_-227-698del	NM_144606.7:c.-227-702_-227-698del	NM_144606.7:c.-227-701_-227-698del	NM_144606.7:c.-227-700_-227-698del	NM_144606.7:c.-227-699_-227-698del	NM_144606.7:c.-227-698del	NM_144606.7:c.-227-698dup	NM_144606.7:c.-227-699_-227-698dup	NM_144606.7:c.-227-700_-227-698dup	NM_144606.7:c.-227-701_-227-698dup	NM_144606.7:c.-227-702_-227-698dup	NM_144606.7:c.-227-703_-227-698dup	NM_144606.7:c.-227-705_-227-698dup
FLCN transcript variant 1	NM_144997.5:c.-227-698=	NM_144997.5:c.-227-710_-227-698del	NM_144997.5:c.-227-709_-227-698del	NM_144997.5:c.-227-708_-227-698del	NM_144997.5:c.-227-707_-227-698del	NM_144997.5:c.-227-705_-227-698del	NM_144997.5:c.-227-704_-227-698del	NM_144997.5:c.-227-703_-227-698del	NM_144997.5:c.-227-702_-227-698del	NM_144997.5:c.-227-701_-227-698del	NM_144997.5:c.-227-700_-227-698del	NM_144997.5:c.-227-699_-227-698del	NM_144997.5:c.-227-698del	NM_144997.5:c.-227-698dup	NM_144997.5:c.-227-699_-227-698dup	NM_144997.5:c.-227-700_-227-698dup	NM_144997.5:c.-227-701_-227-698dup	NM_144997.5:c.-227-702_-227-698dup	NM_144997.5:c.-227-703_-227-698dup	NM_144997.5:c.-227-705_-227-698dup
FLCN transcript variant 1	NM_144997.7:c.-227-698=	NM_144997.7:c.-227-710_-227-698del	NM_144997.7:c.-227-709_-227-698del	NM_144997.7:c.-227-708_-227-698del	NM_144997.7:c.-227-707_-227-698del	NM_144997.7:c.-227-705_-227-698del	NM_144997.7:c.-227-704_-227-698del	NM_144997.7:c.-227-703_-227-698del	NM_144997.7:c.-227-702_-227-698del	NM_144997.7:c.-227-701_-227-698del	NM_144997.7:c.-227-700_-227-698del	NM_144997.7:c.-227-699_-227-698del	NM_144997.7:c.-227-698del	NM_144997.7:c.-227-698dup	NM_144997.7:c.-227-699_-227-698dup	NM_144997.7:c.-227-700_-227-698dup	NM_144997.7:c.-227-701_-227-698dup	NM_144997.7:c.-227-702_-227-698dup	NM_144997.7:c.-227-703_-227-698dup	NM_144997.7:c.-227-705_-227-698dup
FLCN transcript variant X1	XM_005256514.1:c.-887-698=	XM_005256514.1:c.-887-710_-887-698del	XM_005256514.1:c.-887-709_-887-698del	XM_005256514.1:c.-887-708_-887-698del	XM_005256514.1:c.-887-707_-887-698del	XM_005256514.1:c.-887-705_-887-698del	XM_005256514.1:c.-887-704_-887-698del	XM_005256514.1:c.-887-703_-887-698del	XM_005256514.1:c.-887-702_-887-698del	XM_005256514.1:c.-887-701_-887-698del	XM_005256514.1:c.-887-700_-887-698del	XM_005256514.1:c.-887-699_-887-698del	XM_005256514.1:c.-887-698del	XM_005256514.1:c.-887-698dup	XM_005256514.1:c.-887-699_-887-698dup	XM_005256514.1:c.-887-700_-887-698dup	XM_005256514.1:c.-887-701_-887-698dup	XM_005256514.1:c.-887-702_-887-698dup	XM_005256514.1:c.-887-703_-887-698dup	XM_005256514.1:c.-887-705_-887-698dup
FLCN transcript variant X2	XM_005256515.1:c.-426-698=	XM_005256515.1:c.-426-710_-426-698del	XM_005256515.1:c.-426-709_-426-698del	XM_005256515.1:c.-426-708_-426-698del	XM_005256515.1:c.-426-707_-426-698del	XM_005256515.1:c.-426-705_-426-698del	XM_005256515.1:c.-426-704_-426-698del	XM_005256515.1:c.-426-703_-426-698del	XM_005256515.1:c.-426-702_-426-698del	XM_005256515.1:c.-426-701_-426-698del	XM_005256515.1:c.-426-700_-426-698del	XM_005256515.1:c.-426-699_-426-698del	XM_005256515.1:c.-426-698del	XM_005256515.1:c.-426-698dup	XM_005256515.1:c.-426-699_-426-698dup	XM_005256515.1:c.-426-700_-426-698dup	XM_005256515.1:c.-426-701_-426-698dup	XM_005256515.1:c.-426-702_-426-698dup	XM_005256515.1:c.-426-703_-426-698dup	XM_005256515.1:c.-426-705_-426-698dup
FLCN transcript variant X4	XM_005256517.1:c.-887-698=	XM_005256517.1:c.-887-710_-887-698del	XM_005256517.1:c.-887-709_-887-698del	XM_005256517.1:c.-887-708_-887-698del	XM_005256517.1:c.-887-707_-887-698del	XM_005256517.1:c.-887-705_-887-698del	XM_005256517.1:c.-887-704_-887-698del	XM_005256517.1:c.-887-703_-887-698del	XM_005256517.1:c.-887-702_-887-698del	XM_005256517.1:c.-887-701_-887-698del	XM_005256517.1:c.-887-700_-887-698del	XM_005256517.1:c.-887-699_-887-698del	XM_005256517.1:c.-887-698del	XM_005256517.1:c.-887-698dup	XM_005256517.1:c.-887-699_-887-698dup	XM_005256517.1:c.-887-700_-887-698dup	XM_005256517.1:c.-887-701_-887-698dup	XM_005256517.1:c.-887-702_-887-698dup	XM_005256517.1:c.-887-703_-887-698dup	XM_005256517.1:c.-887-705_-887-698dup
FLCN transcript variant X1	XM_011523714.4:c.-227-698=	XM_011523714.4:c.-227-710_-227-698del	XM_011523714.4:c.-227-709_-227-698del	XM_011523714.4:c.-227-708_-227-698del	XM_011523714.4:c.-227-707_-227-698del	XM_011523714.4:c.-227-705_-227-698del	XM_011523714.4:c.-227-704_-227-698del	XM_011523714.4:c.-227-703_-227-698del	XM_011523714.4:c.-227-702_-227-698del	XM_011523714.4:c.-227-701_-227-698del	XM_011523714.4:c.-227-700_-227-698del	XM_011523714.4:c.-227-699_-227-698del	XM_011523714.4:c.-227-698del	XM_011523714.4:c.-227-698dup	XM_011523714.4:c.-227-699_-227-698dup	XM_011523714.4:c.-227-700_-227-698dup	XM_011523714.4:c.-227-701_-227-698dup	XM_011523714.4:c.-227-702_-227-698dup	XM_011523714.4:c.-227-703_-227-698dup	XM_011523714.4:c.-227-705_-227-698dup
FLCN transcript variant X7	XM_011523718.4:c.-138-698=	XM_011523718.4:c.-138-710_-138-698del	XM_011523718.4:c.-138-709_-138-698del	XM_011523718.4:c.-138-708_-138-698del	XM_011523718.4:c.-138-707_-138-698del	XM_011523718.4:c.-138-705_-138-698del	XM_011523718.4:c.-138-704_-138-698del	XM_011523718.4:c.-138-703_-138-698del	XM_011523718.4:c.-138-702_-138-698del	XM_011523718.4:c.-138-701_-138-698del	XM_011523718.4:c.-138-700_-138-698del	XM_011523718.4:c.-138-699_-138-698del	XM_011523718.4:c.-138-698del	XM_011523718.4:c.-138-698dup	XM_011523718.4:c.-138-699_-138-698dup	XM_011523718.4:c.-138-700_-138-698dup	XM_011523718.4:c.-138-701_-138-698dup	XM_011523718.4:c.-138-702_-138-698dup	XM_011523718.4:c.-138-703_-138-698dup	XM_011523718.4:c.-138-705_-138-698dup
FLCN transcript variant X17	XM_011523721.4:c.-138-698=	XM_011523721.4:c.-138-710_-138-698del	XM_011523721.4:c.-138-709_-138-698del	XM_011523721.4:c.-138-708_-138-698del	XM_011523721.4:c.-138-707_-138-698del	XM_011523721.4:c.-138-705_-138-698del	XM_011523721.4:c.-138-704_-138-698del	XM_011523721.4:c.-138-703_-138-698del	XM_011523721.4:c.-138-702_-138-698del	XM_011523721.4:c.-138-701_-138-698del	XM_011523721.4:c.-138-700_-138-698del	XM_011523721.4:c.-138-699_-138-698del	XM_011523721.4:c.-138-698del	XM_011523721.4:c.-138-698dup	XM_011523721.4:c.-138-699_-138-698dup	XM_011523721.4:c.-138-700_-138-698dup	XM_011523721.4:c.-138-701_-138-698dup	XM_011523721.4:c.-138-702_-138-698dup	XM_011523721.4:c.-138-703_-138-698dup	XM_011523721.4:c.-138-705_-138-698dup
FLCN transcript variant X2	XM_017024305.3:c.-426-698=	XM_017024305.3:c.-426-710_-426-698del	XM_017024305.3:c.-426-709_-426-698del	XM_017024305.3:c.-426-708_-426-698del	XM_017024305.3:c.-426-707_-426-698del	XM_017024305.3:c.-426-705_-426-698del	XM_017024305.3:c.-426-704_-426-698del	XM_017024305.3:c.-426-703_-426-698del	XM_017024305.3:c.-426-702_-426-698del	XM_017024305.3:c.-426-701_-426-698del	XM_017024305.3:c.-426-700_-426-698del	XM_017024305.3:c.-426-699_-426-698del	XM_017024305.3:c.-426-698del	XM_017024305.3:c.-426-698dup	XM_017024305.3:c.-426-699_-426-698dup	XM_017024305.3:c.-426-700_-426-698dup	XM_017024305.3:c.-426-701_-426-698dup	XM_017024305.3:c.-426-702_-426-698dup	XM_017024305.3:c.-426-703_-426-698dup	XM_017024305.3:c.-426-705_-426-698dup
FLCN transcript variant X12	XM_017024308.2:c.-426-698=	XM_017024308.2:c.-426-710_-426-698del	XM_017024308.2:c.-426-709_-426-698del	XM_017024308.2:c.-426-708_-426-698del	XM_017024308.2:c.-426-707_-426-698del	XM_017024308.2:c.-426-705_-426-698del	XM_017024308.2:c.-426-704_-426-698del	XM_017024308.2:c.-426-703_-426-698del	XM_017024308.2:c.-426-702_-426-698del	XM_017024308.2:c.-426-701_-426-698del	XM_017024308.2:c.-426-700_-426-698del	XM_017024308.2:c.-426-699_-426-698del	XM_017024308.2:c.-426-698del	XM_017024308.2:c.-426-698dup	XM_017024308.2:c.-426-699_-426-698dup	XM_017024308.2:c.-426-700_-426-698dup	XM_017024308.2:c.-426-701_-426-698dup	XM_017024308.2:c.-426-702_-426-698dup	XM_017024308.2:c.-426-703_-426-698dup	XM_017024308.2:c.-426-705_-426-698dup
FLCN transcript variant X14	XM_017024309.3:c.-227-698=	XM_017024309.3:c.-227-710_-227-698del	XM_017024309.3:c.-227-709_-227-698del	XM_017024309.3:c.-227-708_-227-698del	XM_017024309.3:c.-227-707_-227-698del	XM_017024309.3:c.-227-705_-227-698del	XM_017024309.3:c.-227-704_-227-698del	XM_017024309.3:c.-227-703_-227-698del	XM_017024309.3:c.-227-702_-227-698del	XM_017024309.3:c.-227-701_-227-698del	XM_017024309.3:c.-227-700_-227-698del	XM_017024309.3:c.-227-699_-227-698del	XM_017024309.3:c.-227-698del	XM_017024309.3:c.-227-698dup	XM_017024309.3:c.-227-699_-227-698dup	XM_017024309.3:c.-227-700_-227-698dup	XM_017024309.3:c.-227-701_-227-698dup	XM_017024309.3:c.-227-702_-227-698dup	XM_017024309.3:c.-227-703_-227-698dup	XM_017024309.3:c.-227-705_-227-698dup
FLCN transcript variant X3	XM_047435531.1:c.-227-698=	XM_047435531.1:c.-227-710_-227-698del	XM_047435531.1:c.-227-709_-227-698del	XM_047435531.1:c.-227-708_-227-698del	XM_047435531.1:c.-227-707_-227-698del	XM_047435531.1:c.-227-705_-227-698del	XM_047435531.1:c.-227-704_-227-698del	XM_047435531.1:c.-227-703_-227-698del	XM_047435531.1:c.-227-702_-227-698del	XM_047435531.1:c.-227-701_-227-698del	XM_047435531.1:c.-227-700_-227-698del	XM_047435531.1:c.-227-699_-227-698del	XM_047435531.1:c.-227-698del	XM_047435531.1:c.-227-698dup	XM_047435531.1:c.-227-699_-227-698dup	XM_047435531.1:c.-227-700_-227-698dup	XM_047435531.1:c.-227-701_-227-698dup	XM_047435531.1:c.-227-702_-227-698dup	XM_047435531.1:c.-227-703_-227-698dup	XM_047435531.1:c.-227-705_-227-698dup
FLCN transcript variant X4	XM_047435532.1:c.-1896-698=	XM_047435532.1:c.-1896-710_-1896-698del	XM_047435532.1:c.-1896-709_-1896-698del	XM_047435532.1:c.-1896-708_-1896-698del	XM_047435532.1:c.-1896-707_-1896-698del	XM_047435532.1:c.-1896-705_-1896-698del	XM_047435532.1:c.-1896-704_-1896-698del	XM_047435532.1:c.-1896-703_-1896-698del	XM_047435532.1:c.-1896-702_-1896-698del	XM_047435532.1:c.-1896-701_-1896-698del	XM_047435532.1:c.-1896-700_-1896-698del	XM_047435532.1:c.-1896-699_-1896-698del	XM_047435532.1:c.-1896-698del	XM_047435532.1:c.-1896-698dup	XM_047435532.1:c.-1896-699_-1896-698dup	XM_047435532.1:c.-1896-700_-1896-698dup	XM_047435532.1:c.-1896-701_-1896-698dup	XM_047435532.1:c.-1896-702_-1896-698dup	XM_047435532.1:c.-1896-703_-1896-698dup	XM_047435532.1:c.-1896-705_-1896-698dup
FLCN transcript variant X5	XM_047435533.1:c.-887-698=	XM_047435533.1:c.-887-710_-887-698del	XM_047435533.1:c.-887-709_-887-698del	XM_047435533.1:c.-887-708_-887-698del	XM_047435533.1:c.-887-707_-887-698del	XM_047435533.1:c.-887-705_-887-698del	XM_047435533.1:c.-887-704_-887-698del	XM_047435533.1:c.-887-703_-887-698del	XM_047435533.1:c.-887-702_-887-698del	XM_047435533.1:c.-887-701_-887-698del	XM_047435533.1:c.-887-700_-887-698del	XM_047435533.1:c.-887-699_-887-698del	XM_047435533.1:c.-887-698del	XM_047435533.1:c.-887-698dup	XM_047435533.1:c.-887-699_-887-698dup	XM_047435533.1:c.-887-700_-887-698dup	XM_047435533.1:c.-887-701_-887-698dup	XM_047435533.1:c.-887-702_-887-698dup	XM_047435533.1:c.-887-703_-887-698dup	XM_047435533.1:c.-887-705_-887-698dup
FLCN transcript variant X6	XM_047435534.1:c.-971-698=	XM_047435534.1:c.-971-710_-971-698del	XM_047435534.1:c.-971-709_-971-698del	XM_047435534.1:c.-971-708_-971-698del	XM_047435534.1:c.-971-707_-971-698del	XM_047435534.1:c.-971-705_-971-698del	XM_047435534.1:c.-971-704_-971-698del	XM_047435534.1:c.-971-703_-971-698del	XM_047435534.1:c.-971-702_-971-698del	XM_047435534.1:c.-971-701_-971-698del	XM_047435534.1:c.-971-700_-971-698del	XM_047435534.1:c.-971-699_-971-698del	XM_047435534.1:c.-971-698del	XM_047435534.1:c.-971-698dup	XM_047435534.1:c.-971-699_-971-698dup	XM_047435534.1:c.-971-700_-971-698dup	XM_047435534.1:c.-971-701_-971-698dup	XM_047435534.1:c.-971-702_-971-698dup	XM_047435534.1:c.-971-703_-971-698dup	XM_047435534.1:c.-971-705_-971-698dup
FLCN transcript variant X8	XM_047435535.1:c.-227-698=	XM_047435535.1:c.-227-710_-227-698del	XM_047435535.1:c.-227-709_-227-698del	XM_047435535.1:c.-227-708_-227-698del	XM_047435535.1:c.-227-707_-227-698del	XM_047435535.1:c.-227-705_-227-698del	XM_047435535.1:c.-227-704_-227-698del	XM_047435535.1:c.-227-703_-227-698del	XM_047435535.1:c.-227-702_-227-698del	XM_047435535.1:c.-227-701_-227-698del	XM_047435535.1:c.-227-700_-227-698del	XM_047435535.1:c.-227-699_-227-698del	XM_047435535.1:c.-227-698del	XM_047435535.1:c.-227-698dup	XM_047435535.1:c.-227-699_-227-698dup	XM_047435535.1:c.-227-700_-227-698dup	XM_047435535.1:c.-227-701_-227-698dup	XM_047435535.1:c.-227-702_-227-698dup	XM_047435535.1:c.-227-703_-227-698dup	XM_047435535.1:c.-227-705_-227-698dup
FLCN transcript variant X9	XM_047435536.1:c.-227-698=	XM_047435536.1:c.-227-710_-227-698del	XM_047435536.1:c.-227-709_-227-698del	XM_047435536.1:c.-227-708_-227-698del	XM_047435536.1:c.-227-707_-227-698del	XM_047435536.1:c.-227-705_-227-698del	XM_047435536.1:c.-227-704_-227-698del	XM_047435536.1:c.-227-703_-227-698del	XM_047435536.1:c.-227-702_-227-698del	XM_047435536.1:c.-227-701_-227-698del	XM_047435536.1:c.-227-700_-227-698del	XM_047435536.1:c.-227-699_-227-698del	XM_047435536.1:c.-227-698del	XM_047435536.1:c.-227-698dup	XM_047435536.1:c.-227-699_-227-698dup	XM_047435536.1:c.-227-700_-227-698dup	XM_047435536.1:c.-227-701_-227-698dup	XM_047435536.1:c.-227-702_-227-698dup	XM_047435536.1:c.-227-703_-227-698dup	XM_047435536.1:c.-227-705_-227-698dup
FLCN transcript variant X10	XM_047435537.1:c.-1896-698=	XM_047435537.1:c.-1896-710_-1896-698del	XM_047435537.1:c.-1896-709_-1896-698del	XM_047435537.1:c.-1896-708_-1896-698del	XM_047435537.1:c.-1896-707_-1896-698del	XM_047435537.1:c.-1896-705_-1896-698del	XM_047435537.1:c.-1896-704_-1896-698del	XM_047435537.1:c.-1896-703_-1896-698del	XM_047435537.1:c.-1896-702_-1896-698del	XM_047435537.1:c.-1896-701_-1896-698del	XM_047435537.1:c.-1896-700_-1896-698del	XM_047435537.1:c.-1896-699_-1896-698del	XM_047435537.1:c.-1896-698del	XM_047435537.1:c.-1896-698dup	XM_047435537.1:c.-1896-699_-1896-698dup	XM_047435537.1:c.-1896-700_-1896-698dup	XM_047435537.1:c.-1896-701_-1896-698dup	XM_047435537.1:c.-1896-702_-1896-698dup	XM_047435537.1:c.-1896-703_-1896-698dup	XM_047435537.1:c.-1896-705_-1896-698dup
FLCN transcript variant X11	XM_047435538.1:c.-138-698=	XM_047435538.1:c.-138-710_-138-698del	XM_047435538.1:c.-138-709_-138-698del	XM_047435538.1:c.-138-708_-138-698del	XM_047435538.1:c.-138-707_-138-698del	XM_047435538.1:c.-138-705_-138-698del	XM_047435538.1:c.-138-704_-138-698del	XM_047435538.1:c.-138-703_-138-698del	XM_047435538.1:c.-138-702_-138-698del	XM_047435538.1:c.-138-701_-138-698del	XM_047435538.1:c.-138-700_-138-698del	XM_047435538.1:c.-138-699_-138-698del	XM_047435538.1:c.-138-698del	XM_047435538.1:c.-138-698dup	XM_047435538.1:c.-138-699_-138-698dup	XM_047435538.1:c.-138-700_-138-698dup	XM_047435538.1:c.-138-701_-138-698dup	XM_047435538.1:c.-138-702_-138-698dup	XM_047435538.1:c.-138-703_-138-698dup	XM_047435538.1:c.-138-705_-138-698dup
FLCN transcript variant X15	XM_047435540.1:c.-227-698=	XM_047435540.1:c.-227-710_-227-698del	XM_047435540.1:c.-227-709_-227-698del	XM_047435540.1:c.-227-708_-227-698del	XM_047435540.1:c.-227-707_-227-698del	XM_047435540.1:c.-227-705_-227-698del	XM_047435540.1:c.-227-704_-227-698del	XM_047435540.1:c.-227-703_-227-698del	XM_047435540.1:c.-227-702_-227-698del	XM_047435540.1:c.-227-701_-227-698del	XM_047435540.1:c.-227-700_-227-698del	XM_047435540.1:c.-227-699_-227-698del	XM_047435540.1:c.-227-698del	XM_047435540.1:c.-227-698dup	XM_047435540.1:c.-227-699_-227-698dup	XM_047435540.1:c.-227-700_-227-698dup	XM_047435540.1:c.-227-701_-227-698dup	XM_047435540.1:c.-227-702_-227-698dup	XM_047435540.1:c.-227-703_-227-698dup	XM_047435540.1:c.-227-705_-227-698dup
FLCN transcript variant X16	XM_047435541.1:c.-138-698=	XM_047435541.1:c.-138-710_-138-698del	XM_047435541.1:c.-138-709_-138-698del	XM_047435541.1:c.-138-708_-138-698del	XM_047435541.1:c.-138-707_-138-698del	XM_047435541.1:c.-138-705_-138-698del	XM_047435541.1:c.-138-704_-138-698del	XM_047435541.1:c.-138-703_-138-698del	XM_047435541.1:c.-138-702_-138-698del	XM_047435541.1:c.-138-701_-138-698del	XM_047435541.1:c.-138-700_-138-698del	XM_047435541.1:c.-138-699_-138-698del	XM_047435541.1:c.-138-698del	XM_047435541.1:c.-138-698dup	XM_047435541.1:c.-138-699_-138-698dup	XM_047435541.1:c.-138-700_-138-698dup	XM_047435541.1:c.-138-701_-138-698dup	XM_047435541.1:c.-138-702_-138-698dup	XM_047435541.1:c.-138-703_-138-698dup	XM_047435541.1:c.-138-705_-138-698dup
FLCN transcript variant X18	XM_047435542.1:c.-1896-698=	XM_047435542.1:c.-1896-710_-1896-698del	XM_047435542.1:c.-1896-709_-1896-698del	XM_047435542.1:c.-1896-708_-1896-698del	XM_047435542.1:c.-1896-707_-1896-698del	XM_047435542.1:c.-1896-705_-1896-698del	XM_047435542.1:c.-1896-704_-1896-698del	XM_047435542.1:c.-1896-703_-1896-698del	XM_047435542.1:c.-1896-702_-1896-698del	XM_047435542.1:c.-1896-701_-1896-698del	XM_047435542.1:c.-1896-700_-1896-698del	XM_047435542.1:c.-1896-699_-1896-698del	XM_047435542.1:c.-1896-698del	XM_047435542.1:c.-1896-698dup	XM_047435542.1:c.-1896-699_-1896-698dup	XM_047435542.1:c.-1896-700_-1896-698dup	XM_047435542.1:c.-1896-701_-1896-698dup	XM_047435542.1:c.-1896-702_-1896-698dup	XM_047435542.1:c.-1896-703_-1896-698dup	XM_047435542.1:c.-1896-705_-1896-698dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

45 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95690253	Feb 13, 2009 (130)
2	PJP	ss294907046	May 09, 2011 (137)
3	SWEGEN	ss3015280434	Nov 08, 2017 (151)
4	MCHAISSO	ss3064704668	Nov 08, 2017 (151)
5	MCHAISSO	ss3065642470	Nov 08, 2017 (151)
6	URBANLAB	ss3650615276	Oct 12, 2018 (152)
7	EVA_DECODE	ss3700183927	Jul 13, 2019 (153)
8	EVA_DECODE	ss3700183928	Jul 13, 2019 (153)
9	EVA_DECODE	ss3700183929	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700183930	Jul 13, 2019 (153)
11	EVA	ss3834806761	Apr 27, 2020 (154)
12	GNOMAD	ss4308757566	Apr 27, 2021 (155)
13	GNOMAD	ss4308757567	Apr 27, 2021 (155)
14	GNOMAD	ss4308757568	Apr 27, 2021 (155)
15	GNOMAD	ss4308757569	Apr 27, 2021 (155)
16	GNOMAD	ss4308757570	Apr 27, 2021 (155)
17	GNOMAD	ss4308757571	Apr 27, 2021 (155)
18	GNOMAD	ss4308757572	Apr 27, 2021 (155)
19	GNOMAD	ss4308757573	Apr 27, 2021 (155)
20	GNOMAD	ss4308757574	Apr 27, 2021 (155)
21	GNOMAD	ss4308757575	Apr 27, 2021 (155)
22	GNOMAD	ss4308757576	Apr 27, 2021 (155)
23	GNOMAD	ss4308757577	Apr 27, 2021 (155)
24	GNOMAD	ss4308757578	Apr 27, 2021 (155)
25	GNOMAD	ss4308757579	Apr 27, 2021 (155)
26	GNOMAD	ss4308757580	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5221723699	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5221723700	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5221723701	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5221723702	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5221723703	Apr 27, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5302604710	Oct 16, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5302604711	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5302604712	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5302604713	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5302604714	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5302604715	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5495755639	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5495755640	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5495755641	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5777385080	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5777385081	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5777385082	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5777385083	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5777385084	Oct 16, 2022 (156)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502842623 (NC_000017.11:17233598::A 10627/68754) Row 502842624 (NC_000017.11:17233598::AA 2351/68786) Row 502842625 (NC_000017.11:17233598::AAA 1405/68926)...	-	Apr 27, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 79693006 (NC_000017.10:17136912:AA: 8244/15886) Row 79693007 (NC_000017.10:17136912::A 2451/15886) Row 79693008 (NC_000017.10:17136912:A: 162/15886)...	-	Apr 27, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 79693006 (NC_000017.10:17136912:AA: 8244/15886) Row 79693007 (NC_000017.10:17136912::A 2451/15886) Row 79693008 (NC_000017.10:17136912:A: 162/15886)...	-	Apr 27, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 79693006 (NC_000017.10:17136912:AA: 8244/15886) Row 79693007 (NC_000017.10:17136912::A 2451/15886) Row 79693008 (NC_000017.10:17136912:A: 162/15886)...	-	Apr 27, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 79693006 (NC_000017.10:17136912:AA: 8244/15886) Row 79693007 (NC_000017.10:17136912::A 2451/15886) Row 79693008 (NC_000017.10:17136912:A: 162/15886)...	-	Apr 27, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 79693006 (NC_000017.10:17136912:AA: 8244/15886) Row 79693007 (NC_000017.10:17136912::A 2451/15886) Row 79693008 (NC_000017.10:17136912:A: 162/15886)...	-	Apr 27, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 111222184 (NC_000017.11:17233598::A 4270/27720) Row 111222185 (NC_000017.11:17233598:AA: 15186/27720) Row 111222186 (NC_000017.11:17233598:AAA: 26/27720)...	-	Oct 16, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 111222184 (NC_000017.11:17233598::A 4270/27720) Row 111222185 (NC_000017.11:17233598:AA: 15186/27720) Row 111222186 (NC_000017.11:17233598:AAA: 26/27720)...	-	Oct 16, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 111222184 (NC_000017.11:17233598::A 4270/27720) Row 111222185 (NC_000017.11:17233598:AA: 15186/27720) Row 111222186 (NC_000017.11:17233598:AAA: 26/27720)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 111222184 (NC_000017.11:17233598::A 4270/27720) Row 111222185 (NC_000017.11:17233598:AA: 15186/27720) Row 111222186 (NC_000017.11:17233598:AAA: 26/27720)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 111222184 (NC_000017.11:17233598::A 4270/27720) Row 111222185 (NC_000017.11:17233598:AA: 15186/27720) Row 111222186 (NC_000017.11:17233598:AAA: 26/27720)...	-	Oct 16, 2022 (156)
71	ALFA	NC_000017.11 - 17233599	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs139723046	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4308757580	NC_000017.11:17233598:AAAAAAAAAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4308757579	NC_000017.11:17233598:AAAAAAAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4308757578	NC_000017.11:17233598:AAAAAAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4308757577	NC_000017.11:17233598:AAAAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4308757576	NC_000017.11:17233598:AAAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5221723703	NC_000017.10:17136912:AAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3700183930, ss4308757575, ss5302604715, ss5777385082	NC_000017.11:17233598:AAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss294907046	NC_000017.9:17077637:AA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3015280434, ss5221723699	NC_000017.10:17136912:AA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3064704668, ss3065642470, ss3650615276, ss4308757574, ss5302604710, ss5495755639, ss5777385081	NC_000017.11:17233598:AA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3700183929	NC_000017.11:17233599:AA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss95690253	NT_010718.16:16740307:AA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5221723701	NC_000017.10:17136912:A:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4308757573, ss5302604714, ss5495755641, ss5777385084	NC_000017.11:17233598:A:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700183928	NC_000017.11:17233600:A:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3834806761, ss5221723700	NC_000017.10:17136912::A	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4308757566, ss5302604711, ss5495755640, ss5777385080	NC_000017.11:17233598::A	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700183927	NC_000017.11:17233601::A	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5221723702	NC_000017.10:17136912::AA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4308757567, ss5302604713, ss5777385083	NC_000017.11:17233598::AA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4308757568, ss5302604712	NC_000017.11:17233598::AAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4308757569	NC_000017.11:17233598::AAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4308757570	NC_000017.11:17233598::AAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4308757571	NC_000017.11:17233598::AAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11543950129	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4308757572	NC_000017.11:17233598::AAAAAAAA	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3258517904	NC_000017.11:17233598:AAAAAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
ss3258517908	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAA:	NC_000017.11:17233598:AAAAAAAAAAAA… NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs71152852

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs71152852