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rs137854604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 possibility of idiopathic ventricular fibrillation
(T;T) 3 possibility of idiopathic ventricular fibrillation
ReferenceGRCh38 38.1/141
Chromosome3
Position38551243
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854604
ebirs137854604
HLIrs137854604
Exacrs137854604
Varsomers137854604
Maprs137854604
PheGenIrs137854604
hapmaprs137854604
1000 genomesrs137854604
hgdprs137854604
ensemblrs137854604
gopubmedrs137854604
geneviewrs137854604
scholarrs137854604
googlers137854604
pharmgkbrs137854604
gwascentralrs137854604
openSNPrs137854604
23andMers137854604
23andMe allrs137854604
SNP Nexus

SNPshotrs137854604
SNPdbers137854604
MSV3drs137854604
GWAS Ctlgrs137854604
Max Magnitude3

A publication has reported that the minor (and quite rare) T allele of rs137854604 was seen in a 39-year-old Japanese patient who was admitted to the hospital for recurrent syncope and suffered an episode of spontaneous ventricular fibrillation while hospitalized. The patient did not have typical ECG findings of Brugada syndrome.[PMID 10940383]

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
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137854604(T;T)
Alt rs137854604(T;T)
Reference rs137854604(C;C)
Significance Other
Disease VENTRICULAR FIBRILLATION Ventricular fibrillation not provided Brugada syndrome 1
Variation info
Gene SCN5A
CLNDBN VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL Ventricular fibrillation not provided Brugada syndrome 1
Reversed 1
HGVS NC_000003.11:g.38592734G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009981.2, RCV000058743.2, RCV000183102.1, RCV000197520.1,



[PMID 11827685] A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.


[PMID 17141278] A novel mutation in the SCN5A gene is associated with Brugada syndrome.