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rs45471994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45471994(A;A)
Make rs45471994(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38613752
GeneSCN5A
is asnp
is mentioned by
dbSNPrs45471994
ebirs45471994
HLIrs45471994
Exacrs45471994
Varsomers45471994
Maprs45471994
PheGenIrs45471994
hapmaprs45471994
1000 genomesrs45471994
hgdprs45471994
ensemblrs45471994
gopubmedrs45471994
geneviewrs45471994
scholarrs45471994
googlers45471994
pharmgkbrs45471994
gwascentralrs45471994
openSNPrs45471994
23andMers45471994
23andMe allrs45471994
SNP Nexus

SNPshotrs45471994
SNPdbers45471994
MSV3drs45471994
GWAS Ctlgrs45471994
Max Magnitude0

rs45471994, also known as Val232Ile or V232I, 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 rs45471994(A;A)
Alt rs45471994(A;A)
Reference rs45471994(G;G)
Significance Other
Disease Brugada syndrome 1 Brugada syndrome Brugada syndrome not provided not specified
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1 Brugada syndrome Brugada syndrome, lidocaine-induced not provided not specified
Reversed 1
HGVS NC_000003.11:g.38655243C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010010.3, RCV000058840.3, RCV000148856.1, RCV000179564.3, RCV000212989.1,



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

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