rs201754030
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a combined oxidative phosphorylation deficiency-3 mutation |
| (T;T) | 8.1 | Combined oxidative phosphorylation deficiency-3 likely |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 57796461 |
| Gene | TSFM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201754030 |
| dbSNP (classic) | rs201754030 |
| ClinGen | rs201754030 |
| ebi | rs201754030 |
| HLI | rs201754030 |
| Exac | rs201754030 |
| Gnomad | rs201754030 |
| Varsome | rs201754030 |
| LitVar | rs201754030 |
| Map | rs201754030 |
| PheGenI | rs201754030 |
| Biobank | rs201754030 |
| 1000 genomes | rs201754030 |
| hgdp | rs201754030 |
| ensembl | rs201754030 |
| geneview | rs201754030 |
| scholar | rs201754030 |
| rs201754030 | |
| pharmgkb | rs201754030 |
| gwascentral | rs201754030 |
| openSNP | rs201754030 |
| 23andMe | rs201754030 |
| SNPshot | rs201754030 |
| SNPdbe | rs201754030 |
| MSV3d | rs201754030 |
| GWAS Ctlg | rs201754030 |
| Max Magnitude | 8.1 |
rs201754030, also known as c.856C>T, p.Gln286Ter, Gln307* and Q307X, represents a rare mutation in the TSFM gene on chromosome 12.
Inherited as an autosomal recessive, the minor allele is considered pathogenic (in ClinVar and OMIM) for combined oxidative phosphorylation deficiency-3, a serious congenital disorder associated with a variety of myopathic and cardiopathic abnormalities.
| ClinVar | |
|---|---|
| Risk | Rs201754030(T;T) |
| Alt | Rs201754030(T;T) |
| Reference | Rs201754030(C;C) |
| Significance | Pathogenic |
| Disease | Combined oxidative phosphorylation deficiency 3 Primary dilated cardiomyopathy |
| Variation | info |
| Gene | TSFM AVIL |
| CLNDBN | Combined oxidative phosphorylation deficiency 3 Primary dilated cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000012.11:g.58190244C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000143783.3, RCV000157550.1, |
