rs267607128
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Familial hypertrophic cardiomyopathy, type 7 |
| (T;T) | 6 | Familial hypertrophic cardiomyopathy, type 7 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 55157097 |
| Gene | TNNI3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607128 |
| dbSNP (classic) | rs267607128 |
| ClinGen | rs267607128 |
| ebi | rs267607128 |
| HLI | rs267607128 |
| Exac | rs267607128 |
| Gnomad | rs267607128 |
| Varsome | rs267607128 |
| LitVar | rs267607128 |
| Map | rs267607128 |
| PheGenI | rs267607128 |
| Biobank | rs267607128 |
| 1000 genomes | rs267607128 |
| hgdp | rs267607128 |
| ensembl | rs267607128 |
| geneview | rs267607128 |
| scholar | rs267607128 |
| rs267607128 | |
| pharmgkb | rs267607128 |
| gwascentral | rs267607128 |
| openSNP | rs267607128 |
| 23andMe | rs267607128 |
| SNPshot | rs267607128 |
| SNPdbe | rs267607128 |
| MSV3d | rs267607128 |
| GWAS Ctlg | rs267607128 |
| Max Magnitude | 6 |
rs267607128, also known as c.61C>T, p.Arg21Cys and R21C, represents a rare mutation in the TNNI3 gene on chromosome 19.
A single copy of the rare rs267607128(T) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0016.
This mutation is referred to as i5048707 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs267607128(T;T) |
| Alt | Rs267607128(T;T) |
| Reference | Rs267607128(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 7 |
| Variation | info |
| Gene | TNNI3 |
| CLNDBN | Familial hypertrophic cardiomyopathy 7 |
| Reversed | 1 |
| HGVS | NC_000019.9:g.55668465G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013247.16, |
