rs201754030(C;T)
From SNPedia
| Carrier of a combined oxidative phosphorylation deficiency-3 mutation |
| Is a | genotype |
| of | rs201754030 |
| Gene | TSFM, AVIL |
| Chromosome | 12 |
| Position | 57,796,461 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| 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 |
Unaffected in absence of another pathogenic TFSM gene mutation
