rs730880711
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;C) | 6 | Familial Hypertrophic Cardiomyopathy (possible) |
| Make rs730880711(C;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 47342928 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880711 |
| dbSNP (classic) | rs730880711 |
| ClinGen | rs730880711 |
| ebi | rs730880711 |
| HLI | rs730880711 |
| Exac | rs730880711 |
| Gnomad | rs730880711 |
| Varsome | rs730880711 |
| LitVar | rs730880711 |
| Map | rs730880711 |
| PheGenI | rs730880711 |
| Biobank | rs730880711 |
| 1000 genomes | rs730880711 |
| hgdp | rs730880711 |
| ensembl | rs730880711 |
| geneview | rs730880711 |
| scholar | rs730880711 |
| rs730880711 | |
| pharmgkb | rs730880711 |
| gwascentral | rs730880711 |
| openSNP | rs730880711 |
| 23andMe | rs730880711 |
| SNPshot | rs730880711 |
| SNPdbe | rs730880711 |
| MSV3d | rs730880711 |
| GWAS Ctlg | rs730880711 |
| Merged from | Rs863225110 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs730880711(C;C) |
| Alt | rs730880711(C;C) |
| Reference | Rs730880711(-;-) |
| Significance | Pathogenic |
| Disease | Cardiomyopathy Familial hypertrophic cardiomyopathy 4 |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Cardiomyopathy Familial hypertrophic cardiomyopathy 4 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47364480dupG |
| CLNSRC | |
| CLNACC | RCV000158474.1, RCV000201508.1, |
This is expected to be a truncating variant resulting in a abnormal or absent protein. Truncating variants of MYBPC3 are usually pathogenic for HCM.
Submitters to ClinVar have reported one individual with Familial Hypertrophic Cardiomyopathy. [1]
