rs587782951
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 5 | Familial hypertrophic cardiomyopathy risk |
| (C;C) | 0 | common in clinvar |
| Make rs587782951(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 20 |
| Position | 44160305 |
| Gene | JPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587782951 |
| dbSNP (classic) | rs587782951 |
| ClinGen | rs587782951 |
| ebi | rs587782951 |
| HLI | rs587782951 |
| Exac | rs587782951 |
| Gnomad | rs587782951 |
| Varsome | rs587782951 |
| LitVar | rs587782951 |
| Map | rs587782951 |
| PheGenI | rs587782951 |
| Biobank | rs587782951 |
| 1000 genomes | rs587782951 |
| hgdp | rs587782951 |
| ensembl | rs587782951 |
| geneview | rs587782951 |
| scholar | rs587782951 |
| rs587782951 | |
| pharmgkb | rs587782951 |
| gwascentral | rs587782951 |
| openSNP | rs587782951 |
| 23andMe | rs587782951 |
| SNPshot | rs587782951 |
| SNPdbe | rs587782951 |
| MSV3d | rs587782951 |
| GWAS Ctlg | rs587782951 |
| Max Magnitude | 5 |
aka c.482C>A, p.Thr161Lys or T161K
This variant in the JPH2 gene is considered in ClinVar as a variant of uncertain significance with respect to familial hypertrophic cardiomyopathy. However, a 2018 publication based on Finnish patients concludes that the rs58782951(A) mutation is indeed pathogenic for HCM, with a penetrance of 71% by age 60 and 100% by age 80.[PMID 30235249
]
| ClinVar | |
|---|---|
| Risk | rs587782951(A;A) |
| Alt | rs587782951(A;A) |
| Reference | Rs587782951(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | JPH2 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000020.10:g.42788945G>T |
| CLNSRC | |
| CLNACC | RCV000143902.3, RCV000466489.1, |
