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rs113449357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 0.5 likely to be benign
(T;T) 0.5 likely to be benign
ReferenceGRCh38 38.1/141
Chromosome3
Position14139231
GeneTMEM43
is asnp
is mentioned by
dbSNPrs113449357
ebirs113449357
HLIrs113449357
Exacrs113449357
Varsomers113449357
Maprs113449357
PheGenIrs113449357
hapmaprs113449357
1000 genomesrs113449357
hgdprs113449357
ensemblrs113449357
gopubmedrs113449357
geneviewrs113449357
scholarrs113449357
googlers113449357
pharmgkbrs113449357
gwascentralrs113449357
openSNPrs113449357
23andMers113449357
23andMe allrs113449357
SNP Nexus

SNPshotrs113449357
SNPdbers113449357
MSV3drs113449357
GWAS Ctlgrs113449357
GMAF0.006428
Max Magnitude0.5

rs113449357, also known as c.934C>T, p.Arg312Trp and R312W, is a variant in the TMEM43 gene on chromosome 3.

There are conflicting interpretations in ClinVar of whether the minor allele of this variant is pathogenic for an unspecified form of cardiomyopathy. The first report, apparently based on a single patient, indicated it was likely to be pathogenic, but two subsequent reviews (involving more patients and controls) have concluded it is benign. It is a somewhat uncommon variant, present with a frequency of 0.01 - 0.03 depending on the population.

If you know of evidence regarding the potential pathogenicity of this variant, let us know.


ClinVar
Risk rs113449357(T;T)
Alt rs113449357(T;T)
Reference rs113449357(C;C)
Significance Non-pathogenic
Disease Cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene TMEM43
CLNDBN Cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy, type 5
Reversed 0
HGVS NC_000003.11:g.14180731C>T
CLNSRC ClinVar GeneDx LabCorp
CLNACC RCV000030555.1, RCV000039394.4, RCV000233894.1,