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rs137854602

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854602(C;T)
Make rs137854602(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38555664
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854602
ebirs137854602
HLIrs137854602
Exacrs137854602
Varsomers137854602
Maprs137854602
PheGenIrs137854602
hapmaprs137854602
1000 genomesrs137854602
hgdprs137854602
ensemblrs137854602
gopubmedrs137854602
geneviewrs137854602
scholarrs137854602
googlers137854602
pharmgkbrs137854602
gwascentralrs137854602
openSNPrs137854602
23andMers137854602
23andMe allrs137854602
SNP Nexus

SNPshotrs137854602
SNPdbers137854602
MSV3drs137854602
GWAS Ctlgrs137854602
Max Magnitude0
OMIM600163
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137854602(T;T)
Alt rs137854602(T;T)
Reference rs137854602(C;C)
Significance Other
Disease Brugada syndrome 1 not provided Primary familial hypertrophic cardiomyopathy not specified
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1 not provided Primary familial hypertrophic cardiomyopathy not specified
Reversed 1
HGVS NC_000003.11:g.38597155G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009977.2, RCV000058688.4, RCV000157490.1, RCV000222521.1,


[PMID 20129] Molecular mechanism of the cardiotoxic action of a polypeptide neurotoxin from sea anemone on cultured embryonic cardiac cells.


[PMID 10690282] Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.


[PMID 10727653] Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.


[PMID 15851227] Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.


[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.


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