rs104894729
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Familial restrictive cardiomyopathy, type 1 |
| (A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (C;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 55151892 |
| Gene | TNNI3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894729 |
| dbSNP (classic) | rs104894729 |
| ClinGen | rs104894729 |
| ebi | rs104894729 |
| HLI | rs104894729 |
| Exac | rs104894729 |
| Gnomad | rs104894729 |
| Varsome | rs104894729 |
| LitVar | rs104894729 |
| Map | rs104894729 |
| PheGenI | rs104894729 |
| Biobank | rs104894729 |
| 1000 genomes | rs104894729 |
| hgdp | rs104894729 |
| ensembl | rs104894729 |
| geneview | rs104894729 |
| scholar | rs104894729 |
| rs104894729 | |
| pharmgkb | rs104894729 |
| gwascentral | rs104894729 |
| openSNP | rs104894729 |
| 23andMe | rs104894729 |
| SNPshot | rs104894729 |
| SNPdbe | rs104894729 |
| MSV3d | rs104894729 |
| GWAS Ctlg | rs104894729 |
| Max Magnitude | 6.2 |
rs104894729, also known as c.575G>A, p.Arg192His and R192H, represents a rare mutation in the TNNI3 gene on chromosome 19.
A single copy of the rare rs104894729(A) allele is reported to lead to familial restrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0006.
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
This mutation is referred to as i5048716 and i5007732 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs104894729(A;A) rs104894729(C;C) rs104894729(T;T) |
| Alt | Rs104894729(A;A) rs104894729(C;C) rs104894729(T;T) |
| Reference | Rs104894729(G;G) |
| Significance | Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy not specified Familial restrictive cardiomyopathy 1 Cardiomyopathy not provided |
| Variation | info |
| Gene | TNNI3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not specified Familial restrictive cardiomyopathy 1 Cardiomyopathy not provided |
| Reversed | 1 |
| HGVS | NC_000019.9:g.55663260C>A; NC_000019.9:g.55663260C>G; NC_000019.9:g.55663260C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000154466.2, RCV000156328.1, RCV000013237.22, RCV000154212.1, RCV000157534.1, RCV000159242.3, |
