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rs28937316

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5 long QT syndrome
(A;G) 4 associated with Long QT Syndrome
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position38551441
GeneSCN5A
is asnp
is mentioned by
dbSNPrs28937316
ebirs28937316
HLIrs28937316
Exacrs28937316
Varsomers28937316
Maprs28937316
PheGenIrs28937316
hapmaprs28937316
1000 genomesrs28937316
hgdprs28937316
ensemblrs28937316
gopubmedrs28937316
geneviewrs28937316
scholarrs28937316
googlers28937316
pharmgkbrs28937316
gwascentralrs28937316
openSNPrs28937316
23andMers28937316
23andMe allrs28937316
SNP Nexus

SNPshotrs28937316
SNPdbers28937316
MSV3drs28937316
GWAS Ctlgrs28937316
Max Magnitude5

rs28937316, also known as Arg1644His or R1664H, is a SNP in the cardiac sodium channel SCN5A gene on chromosome 3.

Acting in a dominant manner, one copy of a rs28937316(A) allele is considered causative for long QT syndrome 3.[PMID 8541846]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

OMIM600163
DescLONG QT SYNDROME 3
Variant0002
Relatedalso


ClinVar
Risk rs28937316(A,T;A,T)
Alt rs28937316(A,T;A,T)
Reference rs28937316(G;G)
Significance Pathogenic
Disease Long qt syndrome 3 Congenital long QT syndrome not provided
Variation info
Gene SCN5A
CLNDBN Long qt syndrome 3 Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38592932C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009963.5, RCV000058726.2, RCV000183090.2,



[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).


[PMID 862061] [Machanisms in the prenatal development of the ovary].


[PMID 8541846] Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.


[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.


[PMID 19841300OA-icon.png] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.