Name: rs1554610210
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.

rs1554610210

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:32044931-32044943 (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: delCACA / delCA / dupCA
Variation Type: Indel Insertion and Deletion
Frequency: dupCA=0.00120 (33/27414, 14KJPN)
dupCA=0.00018 (3/16321, ALFA)
dupCA=0.002 (1/600, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NRG1 : Intron Variant
NRG1-IT1 : 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	HTRZ	HWEP
Total	Global	16321	ACACACACACACA=0.99982	ACACACACA=0.00000, ACACACACACA=0.00000, ACACACACACACACA=0.00018	0.999632	0.000368	0
European	Sub	12071	ACACACACACACA=0.99975	ACACACACA=0.00000, ACACACACACA=0.00000, ACACACACACACACA=0.00025	0.999503	0.000497	0
African	Sub	2816	ACACACACACACA=1.0000	ACACACACA=0.0000, ACACACACACA=0.0000, ACACACACACACACA=0.0000	1.0	0.0	N/A
African Others	Sub	108	ACACACACACACA=1.000	ACACACACA=0.000, ACACACACACA=0.000, ACACACACACACACA=0.000	1.0	0.0	N/A
African American	Sub	2708	ACACACACACACA=1.0000	ACACACACA=0.0000, ACACACACACA=0.0000, ACACACACACACACA=0.0000	1.0	0.0	N/A
Asian	Sub	108	ACACACACACACA=1.000	ACACACACA=0.000, ACACACACACA=0.000, ACACACACACACACA=0.000	1.0	0.0	N/A
East Asian	Sub	84	ACACACACACACA=1.00	ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACACA=0.00	1.0	0.0	N/A
Other Asian	Sub	24	ACACACACACACA=1.00	ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACACA=0.00	1.0	0.0	N/A
Latin American 1	Sub	144	ACACACACACACA=1.000	ACACACACA=0.000, ACACACACACA=0.000, ACACACACACACACA=0.000	1.0	0.0	N/A
Latin American 2	Sub	610	ACACACACACACA=1.000	ACACACACA=0.000, ACACACACACA=0.000, ACACACACACACACA=0.000	1.0	0.0	N/A
South Asian	Sub	94	ACACACACACACA=1.00	ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACACA=0.00	1.0	0.0	N/A
Other	Sub	478	ACACACACACACA=1.000	ACACACACA=0.000, ACACACACACA=0.000, ACACACACACACACA=0.000	1.0	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
14KJPN	JAPANESE	Study-wide	27414	- No frequency provided	dupCA=0.00120
Allele Frequency Aggregator	Total	Global	16321	(AC)₆A=0.99982	delCACA=0.00000, delCA=0.00000, dupCA=0.00018
Allele Frequency Aggregator	European	Sub	12071	(AC)₆A=0.99975	delCACA=0.00000, delCA=0.00000, dupCA=0.00025
Allele Frequency Aggregator	African	Sub	2816	(AC)₆A=1.0000	delCACA=0.0000, delCA=0.0000, dupCA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	(AC)₆A=1.000	delCACA=0.000, delCA=0.000, dupCA=0.000
Allele Frequency Aggregator	Other	Sub	478	(AC)₆A=1.000	delCACA=0.000, delCA=0.000, dupCA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	144	(AC)₆A=1.000	delCACA=0.000, delCA=0.000, dupCA=0.000
Allele Frequency Aggregator	Asian	Sub	108	(AC)₆A=1.000	delCACA=0.000, delCA=0.000, dupCA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(AC)₆A=1.00	delCACA=0.00, delCA=0.00, dupCA=0.00
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupCA=0.002

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 8	NC_000008.11:g.32044932CA[4]
GRCh38.p14 chr 8	NC_000008.11:g.32044932CA[5]
GRCh38.p14 chr 8	NC_000008.11:g.32044932CA[7]
GRCh37.p13 chr 8	NC_000008.10:g.31902448CA[4]
GRCh37.p13 chr 8	NC_000008.10:g.31902448CA[5]
GRCh37.p13 chr 8	NC_000008.10:g.31902448CA[7]
NRG1 RefSeqGene	NG_012005.2:g.410711CA[4]
NRG1 RefSeqGene	NG_012005.2:g.410711CA[5]
NRG1 RefSeqGene	NG_012005.2:g.410711CA[7]

Gene: NRG1, neuregulin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NRG1 transcript variant HRG-beta1c	NM_001159995.3:c.37+40550… NM_001159995.3:c.37+405500AC[4]	N/A	Intron Variant
NRG1 transcript variant HRG-beta1b	NM_001159999.3:c.37+40550… NM_001159999.3:c.37+405500AC[4]	N/A	Intron Variant
NRG1 transcript variant HRG-beta1d	NM_001160001.3:c.37+40550… NM_001160001.3:c.37+405500AC[4]	N/A	Intron Variant
NRG1 transcript variant fetal-a-IV-1	NM_001322201.2:c.-556+405… NM_001322201.2:c.-556+405500AC[4]	N/A	Intron Variant
NRG1 transcript variant fetal-c-IV-2	NM_001322202.2:c.-505+405… NM_001322202.2:c.-505+405500AC[4]	N/A	Intron Variant
NRG1 transcript variant GGF2	NM_013962.3:c.745+404202A… NM_013962.3:c.745+404202AC[4]	N/A	Intron Variant
NRG1 transcript variant ndf43c	NM_001159996.3:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-gamma2	NM_001160002.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant ndf43b	NM_001160004.3:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-beta3b	NM_001160005.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-gamma3	NM_001160007.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-beta2b	NM_001160008.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant VI-1	NM_001322197.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant NRG-III-beta1a	NM_001322205.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant III-2	NM_001322206.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant III-3	NM_001322207.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-gamma	NM_004495.4:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-beta1	NM_013956.5:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-beta2	NM_013957.5:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-beta3	NM_013958.4:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant SMDF	NM_013959.4:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant ndf43	NM_013960.5:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant HRG-alpha	NM_013964.5:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant X1	XM_011544512.3:c.745+4042… XM_011544512.3:c.745+404202AC[4]	N/A	Intron Variant
NRG1 transcript variant X2	XM_017013367.2:c.745+4042… XM_017013367.2:c.745+404202AC[4]	N/A	Intron Variant
NRG1 transcript variant X4	XM_017013371.3:c.745+4042… XM_017013371.3:c.745+404202AC[4]	N/A	Intron Variant
NRG1 transcript variant X5	XM_017013372.3:c.745+4042… XM_017013372.3:c.745+404202AC[4]	N/A	Intron Variant
NRG1 transcript variant X3	XM_017013368.3:c.	N/A	Genic Upstream Transcript Variant

Gene: NRG1-IT1, NRG1 intronic transcript 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NRG1-IT1 transcript variant 1	NR_104156.1:n.	N/A	Intron Variant
NRG1-IT1 transcript variant 2	NR_104157.1:n.	N/A	Intron Variant
NRG1-IT1 transcript variant 3	NR_104158.1:n.	N/A	Intron 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	(AC)₆A=	delCACA	delCA	dupCA
GRCh38.p14 chr 8	NC_000008.11:g.32044931_32044943=	NC_000008.11:g.32044932CA[4]	NC_000008.11:g.32044932CA[5]	NC_000008.11:g.32044932CA[7]
GRCh37.p13 chr 8	NC_000008.10:g.31902447_31902459=	NC_000008.10:g.31902448CA[4]	NC_000008.10:g.31902448CA[5]	NC_000008.10:g.31902448CA[7]
NRG1 RefSeqGene	NG_012005.2:g.410710_410722=	NG_012005.2:g.410711CA[4]	NG_012005.2:g.410711CA[5]	NG_012005.2:g.410711CA[7]
NRG1 transcript variant HRG-beta1c	NM_001159995.1:c.37+405500=	NM_001159995.1:c.37+405500AC[4]	NM_001159995.1:c.37+405500AC[5]	NM_001159995.1:c.37+405500AC[7]
NRG1 transcript variant HRG-beta1c	NM_001159995.3:c.37+405500=	NM_001159995.3:c.37+405500AC[4]	NM_001159995.3:c.37+405500AC[5]	NM_001159995.3:c.37+405500AC[7]
NRG1 transcript variant HRG-beta1b	NM_001159999.1:c.37+405500=	NM_001159999.1:c.37+405500AC[4]	NM_001159999.1:c.37+405500AC[5]	NM_001159999.1:c.37+405500AC[7]
NRG1 transcript variant HRG-beta1b	NM_001159999.3:c.37+405500=	NM_001159999.3:c.37+405500AC[4]	NM_001159999.3:c.37+405500AC[5]	NM_001159999.3:c.37+405500AC[7]
NRG1 transcript variant HRG-beta1d	NM_001160001.1:c.37+405500=	NM_001160001.1:c.37+405500AC[4]	NM_001160001.1:c.37+405500AC[5]	NM_001160001.1:c.37+405500AC[7]
NRG1 transcript variant HRG-beta1d	NM_001160001.3:c.37+405500=	NM_001160001.3:c.37+405500AC[4]	NM_001160001.3:c.37+405500AC[5]	NM_001160001.3:c.37+405500AC[7]
NRG1 transcript variant fetal-a-IV-1	NM_001322201.2:c.-556+405500=	NM_001322201.2:c.-556+405500AC[4]	NM_001322201.2:c.-556+405500AC[5]	NM_001322201.2:c.-556+405500AC[7]
NRG1 transcript variant fetal-c-IV-2	NM_001322202.2:c.-505+405500=	NM_001322202.2:c.-505+405500AC[4]	NM_001322202.2:c.-505+405500AC[5]	NM_001322202.2:c.-505+405500AC[7]
NRG1 transcript variant GGF2	NM_013962.2:c.745+404202=	NM_013962.2:c.745+404202AC[4]	NM_013962.2:c.745+404202AC[5]	NM_013962.2:c.745+404202AC[7]
NRG1 transcript variant GGF2	NM_013962.3:c.745+404202=	NM_013962.3:c.745+404202AC[4]	NM_013962.3:c.745+404202AC[5]	NM_013962.3:c.745+404202AC[7]
NRG1 transcript variant X4	XM_005273488.1:c.121+404202=	XM_005273488.1:c.121+404202AC[4]	XM_005273488.1:c.121+404202AC[5]	XM_005273488.1:c.121+404202AC[7]
NRG1 transcript variant X1	XM_011544512.3:c.745+404202=	XM_011544512.3:c.745+404202AC[4]	XM_011544512.3:c.745+404202AC[5]	XM_011544512.3:c.745+404202AC[7]
NRG1 transcript variant X2	XM_017013367.2:c.745+404202=	XM_017013367.2:c.745+404202AC[4]	XM_017013367.2:c.745+404202AC[5]	XM_017013367.2:c.745+404202AC[7]
NRG1 transcript variant X4	XM_017013371.3:c.745+404202=	XM_017013371.3:c.745+404202AC[4]	XM_017013371.3:c.745+404202AC[5]	XM_017013371.3:c.745+404202AC[7]
NRG1 transcript variant X5	XM_017013372.3:c.745+404202=	XM_017013372.3:c.745+404202AC[4]	XM_017013372.3:c.745+404202AC[5]	XM_017013372.3:c.745+404202AC[7]

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#.

6 SubSNP, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ACPOP	ss3735549094	Jul 13, 2019 (153)
2	GNOMAD	ss4181890322	Apr 26, 2021 (155)
3	GNOMAD	ss4181890326	Apr 26, 2021 (155)
4	GNOMAD	ss4181890327	Apr 26, 2021 (155)
5	1000G_HIGH_COVERAGE	ss5276652359	Oct 16, 2022 (156)
6	TOMMO_GENOMICS	ss5729801014	Oct 16, 2022 (156)
7	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291824172 (NC_000008.11:32044930::AC 44/126096) Row 291824176 (NC_000008.11:32044930:AC: 1/126132) Row 291824177 (NC_000008.11:32044930:ACAC: 1/126136)	-	Apr 26, 2021 (155)
8	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291824172 (NC_000008.11:32044930::AC 44/126096) Row 291824176 (NC_000008.11:32044930:AC: 1/126132) Row 291824177 (NC_000008.11:32044930:ACAC: 1/126136)	-	Apr 26, 2021 (155)
9	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291824172 (NC_000008.11:32044930::AC 44/126096) Row 291824176 (NC_000008.11:32044930:AC: 1/126132) Row 291824177 (NC_000008.11:32044930:ACAC: 1/126136)	-	Apr 26, 2021 (155)
10	Northern Sweden	NC_000008.10 - 31902447	Jul 13, 2019 (153)
11	14KJPN	NC_000008.11 - 32044931	Oct 16, 2022 (156)
12	ALFA	NC_000008.11 - 32044931	Apr 26, 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)
rs796569302	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4181890327	NC_000008.11:32044930:ACAC:	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACA	(self)
9194609705	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACA	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACA	(self)
ss4181890326, ss5276652359	NC_000008.11:32044930:AC:	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACACA	(self)
9194609705	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACACA	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACACA	(self)
8833959, ss3735549094	NC_000008.10:31902446::AC	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACACACACA	(self)
63638118, ss4181890322, ss5729801014	NC_000008.11:32044930::AC	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACACACACA	(self)
9194609705	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACACACACA	NC_000008.11:32044930:ACACACACACAC… NC_000008.11:32044930:ACACACACACACA:ACACACACACACACA	(self)

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

No publications for rs1554610210

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1554610210