rs397516074
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | familial hypertrophic cardiomyopathy mutation |
| (G;G) | 0 | common in clinvar |
| Make rs397516074(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47348424 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516074 |
| dbSNP (classic) | rs397516074 |
| ClinGen | rs397516074 |
| ebi | rs397516074 |
| HLI | rs397516074 |
| Exac | rs397516074 |
| Gnomad | rs397516074 |
| Varsome | rs397516074 |
| LitVar | rs397516074 |
| Map | rs397516074 |
| PheGenI | rs397516074 |
| Biobank | rs397516074 |
| 1000 genomes | rs397516074 |
| hgdp | rs397516074 |
| ensembl | rs397516074 |
| geneview | rs397516074 |
| scholar | rs397516074 |
| rs397516074 | |
| pharmgkb | rs397516074 |
| gwascentral | rs397516074 |
| openSNP | rs397516074 |
| 23andMe | rs397516074 |
| SNPshot | rs397516074 |
| SNPdbe | rs397516074 |
| MSV3d | rs397516074 |
| GWAS Ctlg | rs397516074 |
| Max Magnitude | 6 |
rs397516074, also known as c.772G>A and p.Glu258Lys, is a mutation in the MYBPC3 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, according to multiple sources in ClinVar.
This mutation was the fifth most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston.[PMID 25611685]
Note: 23andMe refers to this SNP as i5046177.
| ClinVar | |
|---|---|
| Risk | rs397516074(A;A) |
| Alt | rs397516074(A;A) |
| Reference | Rs397516074(G;G) |
| Significance | Other |
| Disease | Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy Cardiovascular phenotype |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47369975C>T |
| CLNSRC | Children's Hospital of Eastern Ontario |
| CLNACC | RCV000035668.6, RCV000158310.3, RCV000161125.6, RCV000205517.3, RCV000247227.1, |
