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

rs63750743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 arrhythmogenic right ventricular dysplasia susceptibility
(T;T) 5 arrhythmogenic right ventricular dysplasia susceptibility
ReferenceGRCh38 38.1/141
Chromosome3
Position14141665
GeneTMEM43
is asnp
is mentioned by
dbSNPrs63750743
ebirs63750743
HLIrs63750743
Exacrs63750743
Varsomers63750743
Maprs63750743
PheGenIrs63750743
hapmaprs63750743
1000 genomesrs63750743
hgdprs63750743
ensemblrs63750743
gopubmedrs63750743
geneviewrs63750743
scholarrs63750743
googlers63750743
pharmgkbrs63750743
gwascentralrs63750743
openSNPrs63750743
23andMers63750743
23andMe allrs63750743
SNP Nexus

SNPshotrs63750743
SNPdbers63750743
MSV3drs63750743
GWAS Ctlgrs63750743
Max Magnitude5

rs63750743, also known as Ser358Leu or S358L, is a SNP in the TMEM43 gene on chromosome 3.

Carrying a single rs63750743(T) allele is reported to lead, sooner or later, to arrhythmogenic right ventricular dysplasia type 5 (ARVD5).[PMID 18313022OA-icon.png]

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]

OMIM612048
Desc
Variant0001
Relatedalso


ClinVar
Risk rs63750743(T;T)
Alt rs63750743(T;T)
Reference rs63750743(C;C)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not provided
Variation info
Gene TMEM43
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 5 Arrhythmogenic right ventricular cardiomyopathy not provided
Reversed 0
HGVS NC_000003.11:g.14183165C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000770.6, RCV000039375.3, RCV000183944.2,



[PMID 18313022OA-icon.png] Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.