rs121434421
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| Make rs121434421(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 32802499 |
| Gene | PKP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434421 |
| dbSNP (classic) | rs121434421 |
| ClinGen | rs121434421 |
| ebi | rs121434421 |
| HLI | rs121434421 |
| Exac | rs121434421 |
| Gnomad | rs121434421 |
| Varsome | rs121434421 |
| LitVar | rs121434421 |
| Map | rs121434421 |
| PheGenI | rs121434421 |
| Biobank | rs121434421 |
| 1000 genomes | rs121434421 |
| hgdp | rs121434421 |
| ensembl | rs121434421 |
| geneview | rs121434421 |
| scholar | rs121434421 |
| rs121434421 | |
| pharmgkb | rs121434421 |
| gwascentral | rs121434421 |
| openSNP | rs121434421 |
| 23andMe | rs121434421 |
| SNPshot | rs121434421 |
| SNPdbe | rs121434421 |
| MSV3d | rs121434421 |
| GWAS Ctlg | rs121434421 |
| Max Magnitude | 6.7 |
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
| 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, |
