rs104894724
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (G;G) | 5 | Familial hypertrophic cardiomyopathy, type 7 |
| (T;T) | 5 | Familial restrictive cardiomyopathy, type 1 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 55154146 |
| Gene | TNNI3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894724 |
| dbSNP (classic) | rs104894724 |
| ClinGen | rs104894724 |
| ebi | rs104894724 |
| HLI | rs104894724 |
| Exac | rs104894724 |
| Gnomad | rs104894724 |
| Varsome | rs104894724 |
| LitVar | rs104894724 |
| Map | rs104894724 |
| PheGenI | rs104894724 |
| Biobank | rs104894724 |
| 1000 genomes | rs104894724 |
| hgdp | rs104894724 |
| ensembl | rs104894724 |
| geneview | rs104894724 |
| scholar | rs104894724 |
| rs104894724 | |
| pharmgkb | rs104894724 |
| gwascentral | rs104894724 |
| openSNP | rs104894724 |
| 23andMe | rs104894724 |
| SNPshot | rs104894724 |
| SNPdbe | rs104894724 |
| MSV3d | rs104894724 |
| GWAS Ctlg | rs104894724 |
| Merged from | Rs28934871 |
| Max Magnitude | 6.2 |
rs104894724 represents two rare mutations in the TNNI3 gene on chromosome 19.
One mutation is also known as c.433C>G, p.Arg145Gly or R145G. A single copy of the rs104894724(G) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0001. This mutation is not known to be tested by 23andMe.
The other mutation is also known as c.433C>T, p.Arg145Trp or R145W. A single copy of the rs104894724(T) allele is reported to lead to familial retrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0008. This mutation is referred to as i3002796 by 23andMe.
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
| ClinVar | |
|---|---|
| Risk | Rs104894724(G;G) Rs104894724(T;T) |
| Alt | Rs104894724(G;G) Rs104894724(T;T) |
| Reference | Rs104894724(C;C) |
| Significance | Other |
| Disease | Familial restrictive cardiomyopathy 1 not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 7 Cardiovascular phenotype |
| Variation | info |
| Gene | TNNI3 |
| CLNDBN | Familial restrictive cardiomyopathy 1 not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 7 Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000019.9:g.55665514G>A; NC_000019.9:g.55665514G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013239.23, RCV000159222.3, RCV000211862.1, RCV000013231.25, RCV000211861.1, RCV000251781.1, RCV000441050.1, |
