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rs41313031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41313031(A;A)
Make rs41313031(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38562456
GeneSCN5A
is asnp
is mentioned by
dbSNPrs41313031
ebirs41313031
HLIrs41313031
Exacrs41313031
Varsomers41313031
Maprs41313031
PheGenIrs41313031
hapmaprs41313031
1000 genomesrs41313031
hgdprs41313031
ensemblrs41313031
gopubmedrs41313031
geneviewrs41313031
scholarrs41313031
googlers41313031
pharmgkbrs41313031
gwascentralrs41313031
openSNPrs41313031
23andMers41313031
23andMe allrs41313031
SNP Nexus

SNPshotrs41313031
SNPdbers41313031
MSV3drs41313031
GWAS Ctlgrs41313031
GMAF0.002755
Max Magnitude0

rs41313031, also known as Leu1308Phe or L1308F, is a SNP in the cardiac sodium channel SCN5A gene.

Some individuals carry two mutations on the same (gene) allele, consisting of rs45471994(A) and rs41313031(A). When exposed to lidocaine, these "double mutant" individuals may develop ventricular tachycardia consistent with Brugada syndrome.[PMID 18599870OA-icon.png]

OMIM600163
Desc
Variant0040
Relatedalso
ClinVar
Risk rs41313031(A;A)
Alt rs41313031(A;A)
Reference rs41313031(G;G)
Significance Pathogenic
Disease Brugada syndrome 1 not provided Brugada syndrome not specified
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1 not provided Brugada syndrome, lidocaine-induced not specified
Reversed 0
HGVS NC_000003.11:g.38603947G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010010.3, RCV000058614.2, RCV000148841.1, RCV000176338.1,


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


[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 18599870OA-icon.png] Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel.


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


[PMID 20129283OA-icon.png] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.