rs397515893
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
| (G;G) | 0 | common in clinvar |
| Make rs397515893(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47343158 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515893 |
| dbSNP (classic) | rs397515893 |
| ClinGen | rs397515893 |
| ebi | rs397515893 |
| HLI | rs397515893 |
| Exac | rs397515893 |
| Gnomad | rs397515893 |
| Varsome | rs397515893 |
| LitVar | rs397515893 |
| Map | rs397515893 |
| PheGenI | rs397515893 |
| Biobank | rs397515893 |
| 1000 genomes | rs397515893 |
| hgdp | rs397515893 |
| ensembl | rs397515893 |
| geneview | rs397515893 |
| scholar | rs397515893 |
| rs397515893 | |
| pharmgkb | rs397515893 |
| gwascentral | rs397515893 |
| openSNP | rs397515893 |
| 23andMe | rs397515893 |
| SNPshot | rs397515893 |
| SNPdbe | rs397515893 |
| MSV3d | rs397515893 |
| GWAS Ctlg | rs397515893 |
| Max Magnitude | 6 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
[PMID 12110947] Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.
| ClinVar | |
|---|---|
| Risk | rs397515893(A;A) |
| Alt | rs397515893(A;A) |
| Reference | Rs397515893(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47364709C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000035378.3, RCV000458315.1, |
