Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1490175874

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:208324990 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/264690, TOPMED)
C=0.000004 (1/251378, GnomAD_exome)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PIKFYVE : Missense 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 27042 T=0.99996 G=0.00004 0.999926 0.0 7.4e-05 0
European Sub 17052 T=0.99994 G=0.00006 0.999883 0.0 0.000117 0
African Sub 7132 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 268 T=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 6864 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 T=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 1900 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999996 G=0.000004
gnomAD - Exomes Global Study-wide 251378 T=0.999996 C=0.000004
gnomAD - Exomes European Sub 135342 T=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 49002 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 34568 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 16256 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10076 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6134 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 10680 T=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 T=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 T=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 G=0.00
Help

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 2 NC_000002.12:g.208324990T>C
GRCh38.p14 chr 2 NC_000002.12:g.208324990T>G
GRCh37.p13 chr 2 NC_000002.11:g.209189714T>C
GRCh37.p13 chr 2 NC_000002.11:g.209189714T>G
PIKFYVE RefSeqGene NG_021188.1:g.63724T>C
PIKFYVE RefSeqGene NG_021188.1:g.63724T>G
Gene: PIKFYVE, phosphoinositide kinase, FYVE-type zinc finger containing (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PIKFYVE transcript variant 4 NM_001178000.2:c. N/A Genic Downstream Transcript Variant
PIKFYVE transcript variant 3 NM_152671.4:c. N/A Genic Downstream Transcript Variant
PIKFYVE transcript variant 2 NM_015040.4:c.2411T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform 2 NP_055855.2:p.Leu804Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant 2 NM_015040.4:c.2411T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform 2 NP_055855.2:p.Leu804Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X1 XM_011510778.4:c.2447T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509080.1:p.Leu816Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X1 XM_011510778.4:c.2447T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509080.1:p.Leu816Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X2 XM_011510779.3:c.2447T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509081.1:p.Leu816Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X2 XM_011510779.3:c.2447T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509081.1:p.Leu816Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X3 XM_011510780.3:c.2444T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X2 XP_011509082.1:p.Leu815Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X3 XM_011510780.3:c.2444T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X2 XP_011509082.1:p.Leu815Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X4 XM_011510781.4:c.2429T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X3 XP_011509083.1:p.Leu810Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X4 XM_011510781.4:c.2429T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X3 XP_011509083.1:p.Leu810Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X5 XM_047443667.1:c.2411T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X4 XP_047299623.1:p.Leu804Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X5 XM_047443667.1:c.2411T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X4 XP_047299623.1:p.Leu804Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X6 XM_017003568.2:c.2393T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X5 XP_016859057.1:p.Leu798Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X6 XM_017003568.2:c.2393T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X5 XP_016859057.1:p.Leu798Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X7 XM_011510782.4:c.2447T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X6 XP_011509084.1:p.Leu816Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X7 XM_011510782.4:c.2447T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X6 XP_011509084.1:p.Leu816Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X8 XM_011510783.4:c.2279T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X7 XP_011509085.1:p.Leu760Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X8 XM_011510783.4:c.2279T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X7 XP_011509085.1:p.Leu760Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X9 XM_011510784.3:c.2276T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X8 XP_011509086.1:p.Leu759Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X9 XM_011510784.3:c.2276T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X8 XP_011509086.1:p.Leu759Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X10 XM_011510785.4:c.2261T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X9 XP_011509087.1:p.Leu754Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X10 XM_011510785.4:c.2261T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X9 XP_011509087.1:p.Leu754Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X11 XM_047443670.1:c.2411T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X10 XP_047299626.1:p.Leu804Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X11 XM_047443670.1:c.2411T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X10 XP_047299626.1:p.Leu804Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X12 XM_047443671.1:c.2243T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299627.1:p.Leu748Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X12 XM_047443671.1:c.2243T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299627.1:p.Leu748Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X13 XM_047443672.1:c.2243T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299628.1:p.Leu748Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X13 XM_047443672.1:c.2243T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299628.1:p.Leu748Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X14 XM_047443673.1:c.2393T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X12 XP_047299629.1:p.Leu798Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X14 XM_047443673.1:c.2393T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X12 XP_047299629.1:p.Leu798Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X15 XM_017003569.2:c.2225T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 XP_016859058.1:p.Leu742Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X15 XM_017003569.2:c.2225T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 XP_016859058.1:p.Leu742Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X16 XM_011510786.4:c.2156T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 XP_011509088.1:p.Leu719Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X16 XM_011510786.4:c.2156T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 XP_011509088.1:p.Leu719Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X17 XM_011510787.2:c.2153T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X15 XP_011509089.1:p.Leu718Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X17 XM_011510787.2:c.2153T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X15 XP_011509089.1:p.Leu718Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X18 XM_011510788.2:c.2120T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_011509090.1:p.Leu707Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X18 XM_011510788.2:c.2120T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_011509090.1:p.Leu707Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X19 XM_047443674.1:c.2120T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_047299630.1:p.Leu707Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X19 XM_047443674.1:c.2120T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_047299630.1:p.Leu707Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X20 XM_047443676.1:c.2102T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X17 XP_047299632.1:p.Leu701Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X20 XM_047443676.1:c.2102T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X17 XP_047299632.1:p.Leu701Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X21 XM_047443677.1:c.2243T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X18 XP_047299633.1:p.Leu748Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X21 XM_047443677.1:c.2243T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X18 XP_047299633.1:p.Leu748Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X22 XM_047443679.1:c.2225T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X19 XP_047299635.1:p.Leu742Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X22 XM_047443679.1:c.2225T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X19 XP_047299635.1:p.Leu742Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X23 XM_047443680.1:c.1988T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X20 XP_047299636.1:p.Leu663Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X23 XM_047443680.1:c.1988T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X20 XP_047299636.1:p.Leu663Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X24 XM_011510789.3:c.1970T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X21 XP_011509091.1:p.Leu657Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X24 XM_011510789.3:c.1970T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X21 XP_011509091.1:p.Leu657Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X25 XM_047443681.1:c.2120T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X22 XP_047299637.1:p.Leu707Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X25 XM_047443681.1:c.2120T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X22 XP_047299637.1:p.Leu707Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X26 XM_017003570.2:c.1952T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X23 XP_016859059.1:p.Leu651Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X26 XM_017003570.2:c.1952T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X23 XP_016859059.1:p.Leu651Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X27 XM_047443682.1:c.1952T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X24 XP_047299638.1:p.Leu651Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X27 XM_047443682.1:c.1952T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X24 XP_047299638.1:p.Leu651Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X28 XM_047443686.1:c.2102T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X25 XP_047299642.1:p.Leu701Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X28 XM_047443686.1:c.2102T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X25 XP_047299642.1:p.Leu701Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X29 XM_047443687.1:c.1934T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X26 XP_047299643.1:p.Leu645Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X29 XM_047443687.1:c.1934T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X26 XP_047299643.1:p.Leu645Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X31 XM_047443689.1:c.1970T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X27 XP_047299645.1:p.Leu657Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X31 XM_047443689.1:c.1970T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X27 XP_047299645.1:p.Leu657Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X32 XM_017003571.2:c.1802T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X28 XP_016859060.1:p.Leu601Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X32 XM_017003571.2:c.1802T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X28 XP_016859060.1:p.Leu601Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X33 XM_047443690.1:c.1952T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X29 XP_047299646.1:p.Leu651Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X33 XM_047443690.1:c.1952T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X29 XP_047299646.1:p.Leu651Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X34 XM_047443695.1:c.1784T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X30 XP_047299651.1:p.Leu595Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X34 XM_047443695.1:c.1784T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X30 XP_047299651.1:p.Leu595Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X35 XM_047443696.1:c.1934T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X31 XP_047299652.1:p.Leu645Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X35 XM_047443696.1:c.1934T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X31 XP_047299652.1:p.Leu645Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X36 XM_047443698.1:c.1454T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_047299654.1:p.Leu485Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X36 XM_047443698.1:c.1454T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_047299654.1:p.Leu485Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X37 XM_017003574.2:c.1454T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_016859063.1:p.Leu485Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X37 XM_017003574.2:c.1454T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_016859063.1:p.Leu485Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X38 XM_011510792.4:c.2447T>C L [CTG] > P [CCG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X33 XP_011509094.1:p.Leu816Pro L (Leu) > P (Pro) Missense Variant
PIKFYVE transcript variant X38 XM_011510792.4:c.2447T>G L [CTG] > R [CGG] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X33 XP_011509094.1:p.Leu816Arg L (Leu) > R (Arg) Missense Variant
PIKFYVE transcript variant X30 XR_007070607.1:n.2617T>C N/A Non Coding Transcript Variant
PIKFYVE transcript variant X30 XR_007070607.1:n.2617T>G N/A Non Coding Transcript Variant
Help

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
Help

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 T= C G
GRCh38.p14 chr 2 NC_000002.12:g.208324990= NC_000002.12:g.208324990T>C NC_000002.12:g.208324990T>G
GRCh37.p13 chr 2 NC_000002.11:g.209189714= NC_000002.11:g.209189714T>C NC_000002.11:g.209189714T>G
PIKFYVE RefSeqGene NG_021188.1:g.63724= NG_021188.1:g.63724T>C NG_021188.1:g.63724T>G
PIKFYVE transcript variant 2 NM_015040.4:c.2411= NM_015040.4:c.2411T>C NM_015040.4:c.2411T>G
PIKFYVE transcript variant 2 NM_015040.3:c.2411= NM_015040.3:c.2411T>C NM_015040.3:c.2411T>G
PIKFYVE transcript variant X1 XM_011510778.4:c.2447= XM_011510778.4:c.2447T>C XM_011510778.4:c.2447T>G
PIKFYVE transcript variant X1 XM_011510778.3:c.2447= XM_011510778.3:c.2447T>C XM_011510778.3:c.2447T>G
PIKFYVE transcript variant X1 XM_011510778.2:c.2447= XM_011510778.2:c.2447T>C XM_011510778.2:c.2447T>G
PIKFYVE transcript variant X1 XM_011510778.1:c.2447= XM_011510778.1:c.2447T>C XM_011510778.1:c.2447T>G
PIKFYVE transcript variant X4 XM_011510781.4:c.2429= XM_011510781.4:c.2429T>C XM_011510781.4:c.2429T>G
PIKFYVE transcript variant X4 XM_011510781.3:c.2429= XM_011510781.3:c.2429T>C XM_011510781.3:c.2429T>G
PIKFYVE transcript variant X4 XM_011510781.2:c.2429= XM_011510781.2:c.2429T>C XM_011510781.2:c.2429T>G
PIKFYVE transcript variant X4 XM_011510781.1:c.2429= XM_011510781.1:c.2429T>C XM_011510781.1:c.2429T>G
PIKFYVE transcript variant X7 XM_011510782.4:c.2447= XM_011510782.4:c.2447T>C XM_011510782.4:c.2447T>G
PIKFYVE transcript variant X6 XM_011510782.3:c.2447= XM_011510782.3:c.2447T>C XM_011510782.3:c.2447T>G
PIKFYVE transcript variant X6 XM_011510782.2:c.2447= XM_011510782.2:c.2447T>C XM_011510782.2:c.2447T>G
PIKFYVE transcript variant X5 XM_011510782.1:c.2447= XM_011510782.1:c.2447T>C XM_011510782.1:c.2447T>G
PIKFYVE transcript variant X8 XM_011510783.4:c.2279= XM_011510783.4:c.2279T>C XM_011510783.4:c.2279T>G
PIKFYVE transcript variant X7 XM_011510783.3:c.2279= XM_011510783.3:c.2279T>C XM_011510783.3:c.2279T>G
PIKFYVE transcript variant X7 XM_011510783.2:c.2279= XM_011510783.2:c.2279T>C XM_011510783.2:c.2279T>G
PIKFYVE transcript variant X6 XM_011510783.1:c.2279= XM_011510783.1:c.2279T>C XM_011510783.1:c.2279T>G
PIKFYVE transcript variant X10 XM_011510785.4:c.2261= XM_011510785.4:c.2261T>C XM_011510785.4:c.2261T>G
PIKFYVE transcript variant X9 XM_011510785.3:c.2261= XM_011510785.3:c.2261T>C XM_011510785.3:c.2261T>G
PIKFYVE transcript variant X9 XM_011510785.2:c.2261= XM_011510785.2:c.2261T>C XM_011510785.2:c.2261T>G
PIKFYVE transcript variant X8 XM_011510785.1:c.2261= XM_011510785.1:c.2261T>C XM_011510785.1:c.2261T>G
PIKFYVE transcript variant X16 XM_011510786.4:c.2156= XM_011510786.4:c.2156T>C XM_011510786.4:c.2156T>G
PIKFYVE transcript variant X11 XM_011510786.3:c.2156= XM_011510786.3:c.2156T>C XM_011510786.3:c.2156T>G
PIKFYVE transcript variant X11 XM_011510786.2:c.2156= XM_011510786.2:c.2156T>C XM_011510786.2:c.2156T>G
PIKFYVE transcript variant X9 XM_011510786.1:c.2156= XM_011510786.1:c.2156T>C XM_011510786.1:c.2156T>G
PIKFYVE transcript variant X38 XM_011510792.4:c.2447= XM_011510792.4:c.2447T>C XM_011510792.4:c.2447T>G
PIKFYVE transcript variant X21 XM_011510792.3:c.2447= XM_011510792.3:c.2447T>C XM_011510792.3:c.2447T>G
PIKFYVE transcript variant X21 XM_011510792.2:c.2447= XM_011510792.2:c.2447T>C XM_011510792.2:c.2447T>G
PIKFYVE transcript variant X16 XM_011510792.1:c.2447= XM_011510792.1:c.2447T>C XM_011510792.1:c.2447T>G
PIKFYVE transcript variant X2 XM_011510779.3:c.2447= XM_011510779.3:c.2447T>C XM_011510779.3:c.2447T>G
PIKFYVE transcript variant X2 XM_011510779.2:c.2447= XM_011510779.2:c.2447T>C XM_011510779.2:c.2447T>G
PIKFYVE transcript variant X2 XM_011510779.1:c.2447= XM_011510779.1:c.2447T>C XM_011510779.1:c.2447T>G
PIKFYVE transcript variant X3 XM_011510780.3:c.2444= XM_011510780.3:c.2444T>C XM_011510780.3:c.2444T>G
PIKFYVE transcript variant X3 XM_011510780.2:c.2444= XM_011510780.2:c.2444T>C XM_011510780.2:c.2444T>G
PIKFYVE transcript variant X3 XM_011510780.1:c.2444= XM_011510780.1:c.2444T>C XM_011510780.1:c.2444T>G
PIKFYVE transcript variant X9 XM_011510784.3:c.2276= XM_011510784.3:c.2276T>C XM_011510784.3:c.2276T>G
PIKFYVE transcript variant X8 XM_011510784.2:c.2276= XM_011510784.2:c.2276T>C XM_011510784.2:c.2276T>G
PIKFYVE transcript variant X7 XM_011510784.1:c.2276= XM_011510784.1:c.2276T>C XM_011510784.1:c.2276T>G
PIKFYVE transcript variant X24 XM_011510789.3:c.1970= XM_011510789.3:c.1970T>C XM_011510789.3:c.1970T>G
PIKFYVE transcript variant X14 XM_011510789.2:c.1970= XM_011510789.2:c.1970T>C XM_011510789.2:c.1970T>G
PIKFYVE transcript variant X12 XM_011510789.1:c.1970= XM_011510789.1:c.1970T>C XM_011510789.1:c.1970T>G
PIKFYVE transcript variant X6 XM_017003568.2:c.2393= XM_017003568.2:c.2393T>C XM_017003568.2:c.2393T>G
PIKFYVE transcript variant X5 XM_017003568.1:c.2393= XM_017003568.1:c.2393T>C XM_017003568.1:c.2393T>G
PIKFYVE transcript variant X15 XM_017003569.2:c.2225= XM_017003569.2:c.2225T>C XM_017003569.2:c.2225T>G
PIKFYVE transcript variant X10 XM_017003569.1:c.2225= XM_017003569.1:c.2225T>C XM_017003569.1:c.2225T>G
PIKFYVE transcript variant X17 XM_011510787.2:c.2153= XM_011510787.2:c.2153T>C XM_011510787.2:c.2153T>G
PIKFYVE transcript variant X12 XM_011510787.1:c.2153= XM_011510787.1:c.2153T>C XM_011510787.1:c.2153T>G
PIKFYVE transcript variant X18 XM_011510788.2:c.2120= XM_011510788.2:c.2120T>C XM_011510788.2:c.2120T>G
PIKFYVE transcript variant X13 XM_011510788.1:c.2120= XM_011510788.1:c.2120T>C XM_011510788.1:c.2120T>G
PIKFYVE transcript variant X26 XM_017003570.2:c.1952= XM_017003570.2:c.1952T>C XM_017003570.2:c.1952T>G
PIKFYVE transcript variant X15 XM_017003570.1:c.1952= XM_017003570.1:c.1952T>C XM_017003570.1:c.1952T>G
PIKFYVE transcript variant X32 XM_017003571.2:c.1802= XM_017003571.2:c.1802T>C XM_017003571.2:c.1802T>G
PIKFYVE transcript variant X16 XM_017003571.1:c.1802= XM_017003571.1:c.1802T>C XM_017003571.1:c.1802T>G
PIKFYVE transcript variant X37 XM_017003574.2:c.1454= XM_017003574.2:c.1454T>C XM_017003574.2:c.1454T>G
PIKFYVE transcript variant X20 XM_017003574.1:c.1454= XM_017003574.1:c.1454T>C XM_017003574.1:c.1454T>G
PIKFYVE transcript variant X5 XM_047443667.1:c.2411= XM_047443667.1:c.2411T>C XM_047443667.1:c.2411T>G
PIKFYVE transcript variant X13 XM_047443672.1:c.2243= XM_047443672.1:c.2243T>C XM_047443672.1:c.2243T>G
PIKFYVE transcript variant X11 XM_047443670.1:c.2411= XM_047443670.1:c.2411T>C XM_047443670.1:c.2411T>G
PIKFYVE transcript variant X12 XM_047443671.1:c.2243= XM_047443671.1:c.2243T>C XM_047443671.1:c.2243T>G
PIKFYVE transcript variant X14 XM_047443673.1:c.2393= XM_047443673.1:c.2393T>C XM_047443673.1:c.2393T>G
PIKFYVE transcript variant X19 XM_047443674.1:c.2120= XM_047443674.1:c.2120T>C XM_047443674.1:c.2120T>G
PIKFYVE transcript variant X20 XM_047443676.1:c.2102= XM_047443676.1:c.2102T>C XM_047443676.1:c.2102T>G
PIKFYVE transcript variant X21 XM_047443677.1:c.2243= XM_047443677.1:c.2243T>C XM_047443677.1:c.2243T>G
PIKFYVE transcript variant X22 XM_047443679.1:c.2225= XM_047443679.1:c.2225T>C XM_047443679.1:c.2225T>G
PIKFYVE transcript variant X23 XM_047443680.1:c.1988= XM_047443680.1:c.1988T>C XM_047443680.1:c.1988T>G
PIKFYVE transcript variant X25 XM_047443681.1:c.2120= XM_047443681.1:c.2120T>C XM_047443681.1:c.2120T>G
PIKFYVE transcript variant X27 XM_047443682.1:c.1952= XM_047443682.1:c.1952T>C XM_047443682.1:c.1952T>G
PIKFYVE transcript variant X28 XM_047443686.1:c.2102= XM_047443686.1:c.2102T>C XM_047443686.1:c.2102T>G
PIKFYVE transcript variant X29 XM_047443687.1:c.1934= XM_047443687.1:c.1934T>C XM_047443687.1:c.1934T>G
PIKFYVE transcript variant X31 XM_047443689.1:c.1970= XM_047443689.1:c.1970T>C XM_047443689.1:c.1970T>G
PIKFYVE transcript variant X33 XM_047443690.1:c.1952= XM_047443690.1:c.1952T>C XM_047443690.1:c.1952T>G
PIKFYVE transcript variant X34 XM_047443695.1:c.1784= XM_047443695.1:c.1784T>C XM_047443695.1:c.1784T>G
PIKFYVE transcript variant X35 XM_047443696.1:c.1934= XM_047443696.1:c.1934T>C XM_047443696.1:c.1934T>G
PIKFYVE transcript variant X36 XM_047443698.1:c.1454= XM_047443698.1:c.1454T>C XM_047443698.1:c.1454T>G
PIKFYVE transcript variant X30 XR_007070607.1:n.2617= XR_007070607.1:n.2617T>C XR_007070607.1:n.2617T>G
PIP5K3 transcript variant 1 NM_001002881.1:c.1454= NM_001002881.1:c.1454T>C NM_001002881.1:c.1454T>G
1-phosphatidylinositol 3-phosphate 5-kinase isoform 2 NP_055855.2:p.Leu804= NP_055855.2:p.Leu804Pro NP_055855.2:p.Leu804Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509080.1:p.Leu816= XP_011509080.1:p.Leu816Pro XP_011509080.1:p.Leu816Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X3 XP_011509083.1:p.Leu810= XP_011509083.1:p.Leu810Pro XP_011509083.1:p.Leu810Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X6 XP_011509084.1:p.Leu816= XP_011509084.1:p.Leu816Pro XP_011509084.1:p.Leu816Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X7 XP_011509085.1:p.Leu760= XP_011509085.1:p.Leu760Pro XP_011509085.1:p.Leu760Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X9 XP_011509087.1:p.Leu754= XP_011509087.1:p.Leu754Pro XP_011509087.1:p.Leu754Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 XP_011509088.1:p.Leu719= XP_011509088.1:p.Leu719Pro XP_011509088.1:p.Leu719Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X33 XP_011509094.1:p.Leu816= XP_011509094.1:p.Leu816Pro XP_011509094.1:p.Leu816Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509081.1:p.Leu816= XP_011509081.1:p.Leu816Pro XP_011509081.1:p.Leu816Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X2 XP_011509082.1:p.Leu815= XP_011509082.1:p.Leu815Pro XP_011509082.1:p.Leu815Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X8 XP_011509086.1:p.Leu759= XP_011509086.1:p.Leu759Pro XP_011509086.1:p.Leu759Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X21 XP_011509091.1:p.Leu657= XP_011509091.1:p.Leu657Pro XP_011509091.1:p.Leu657Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X5 XP_016859057.1:p.Leu798= XP_016859057.1:p.Leu798Pro XP_016859057.1:p.Leu798Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 XP_016859058.1:p.Leu742= XP_016859058.1:p.Leu742Pro XP_016859058.1:p.Leu742Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X15 XP_011509089.1:p.Leu718= XP_011509089.1:p.Leu718Pro XP_011509089.1:p.Leu718Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_011509090.1:p.Leu707= XP_011509090.1:p.Leu707Pro XP_011509090.1:p.Leu707Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X23 XP_016859059.1:p.Leu651= XP_016859059.1:p.Leu651Pro XP_016859059.1:p.Leu651Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X28 XP_016859060.1:p.Leu601= XP_016859060.1:p.Leu601Pro XP_016859060.1:p.Leu601Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_016859063.1:p.Leu485= XP_016859063.1:p.Leu485Pro XP_016859063.1:p.Leu485Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X4 XP_047299623.1:p.Leu804= XP_047299623.1:p.Leu804Pro XP_047299623.1:p.Leu804Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299628.1:p.Leu748= XP_047299628.1:p.Leu748Pro XP_047299628.1:p.Leu748Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X10 XP_047299626.1:p.Leu804= XP_047299626.1:p.Leu804Pro XP_047299626.1:p.Leu804Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299627.1:p.Leu748= XP_047299627.1:p.Leu748Pro XP_047299627.1:p.Leu748Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X12 XP_047299629.1:p.Leu798= XP_047299629.1:p.Leu798Pro XP_047299629.1:p.Leu798Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_047299630.1:p.Leu707= XP_047299630.1:p.Leu707Pro XP_047299630.1:p.Leu707Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X17 XP_047299632.1:p.Leu701= XP_047299632.1:p.Leu701Pro XP_047299632.1:p.Leu701Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X18 XP_047299633.1:p.Leu748= XP_047299633.1:p.Leu748Pro XP_047299633.1:p.Leu748Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X19 XP_047299635.1:p.Leu742= XP_047299635.1:p.Leu742Pro XP_047299635.1:p.Leu742Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X20 XP_047299636.1:p.Leu663= XP_047299636.1:p.Leu663Pro XP_047299636.1:p.Leu663Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X22 XP_047299637.1:p.Leu707= XP_047299637.1:p.Leu707Pro XP_047299637.1:p.Leu707Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X24 XP_047299638.1:p.Leu651= XP_047299638.1:p.Leu651Pro XP_047299638.1:p.Leu651Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X25 XP_047299642.1:p.Leu701= XP_047299642.1:p.Leu701Pro XP_047299642.1:p.Leu701Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X26 XP_047299643.1:p.Leu645= XP_047299643.1:p.Leu645Pro XP_047299643.1:p.Leu645Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X27 XP_047299645.1:p.Leu657= XP_047299645.1:p.Leu657Pro XP_047299645.1:p.Leu657Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X29 XP_047299646.1:p.Leu651= XP_047299646.1:p.Leu651Pro XP_047299646.1:p.Leu651Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X30 XP_047299651.1:p.Leu595= XP_047299651.1:p.Leu595Pro XP_047299651.1:p.Leu595Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X31 XP_047299652.1:p.Leu645= XP_047299652.1:p.Leu645Pro XP_047299652.1:p.Leu645Arg
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_047299654.1:p.Leu485= XP_047299654.1:p.Leu485Pro XP_047299654.1:p.Leu485Arg
Help

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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2733286537 Nov 08, 2017 (151)
2 TOPMED ss4542573425 Apr 26, 2021 (155)
3 gnomAD - Exomes NC_000002.11 - 209189714 Jul 13, 2019 (153)
4 TopMed NC_000002.12 - 208324990 Apr 26, 2021 (155)
5 ALFA NC_000002.12 - 208324990 Apr 26, 2021 (155)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2351369, ss2733286537 NC_000002.11:209189713:T:C NC_000002.12:208324989:T:C (self)
346396304, 10025610310, ss4542573425 NC_000002.12:208324989:T:G NC_000002.12:208324989:T:G (self)
Help

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

No publications for rs1490175874

Help

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.

Software version is: 2.0.1.post820+afb47a3d