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rs121434421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 right ventricular dysfunction possible (exercise related?)
Make rs121434421(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32802499
GenePKP2
is asnp
is mentioned by
dbSNPrs121434421
ebirs121434421
HLIrs121434421
Exacrs121434421
Varsomers121434421
Maprs121434421
PheGenIrs121434421
hapmaprs121434421
1000 genomesrs121434421
hgdprs121434421
ensemblrs121434421
gopubmedrs121434421
geneviewrs121434421
scholarrs121434421
googlers121434421
pharmgkbrs121434421
gwascentralrs121434421
openSNPrs121434421
23andMers121434421
23andMe allrs121434421
SNP Nexus

SNPshotrs121434421
SNPdbers121434421
MSV3drs121434421
GWAS Ctlgrs121434421
Max Magnitude3.5

rs121434421, also known as c.2203C>T, p.Arg735Ter and R735X, is a rare mutation in the PKP2 gene on chromosome 12.

The rs121434421(T) allele is reported as pathogenic for ARVD type 9 in ClinVar by two sources, acting in a dominant manner. Additionally, mice engineered to contain this mutation exhibit right ventricular dysfunction resembling the ARVD phenotype when subjected to endurance exercising.[PMID 25857910]

See also OMIM 602861.0002

OMIM602861
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434421(T;T)
Alt rs121434421(T;T)
Reference rs121434421(C;C)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9 Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32955433G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007147.4, RCV000211738.1,