Have questions? Visit https://www.reddit.com/r/SNPedia

rs137854614

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854614(A;G)
Make rs137854614(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38550988
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854614
ebirs137854614
HLIrs137854614
Exacrs137854614
Varsomers137854614
Maprs137854614
PheGenIrs137854614
hapmaprs137854614
1000 genomesrs137854614
hgdprs137854614
ensemblrs137854614
gopubmedrs137854614
geneviewrs137854614
scholarrs137854614
googlers137854614
pharmgkbrs137854614
gwascentralrs137854614
openSNPrs137854614
23andMers137854614
23andMe allrs137854614
SNP Nexus

SNPshotrs137854614
SNPdbers137854614
MSV3drs137854614
GWAS Ctlgrs137854614
Max Magnitude0
OMIM600163
Desc
Variant0029
Relatedalso
ClinVar
Risk rs137854614(G;G)
Alt rs137854614(G;G)
Reference rs137854614(A;A)
Significance Pathogenic
Disease Long qt syndrome 3 Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Long qt syndrome 3 Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38592479T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009969.2, RCV000058778.2,


[PMID 11410597] Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.


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


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.


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