rs138439950(C;T)
From SNPedia
| Carrier of a mitochondrial depletion syndrome mutation |
| Is a | genotype |
| of | rs138439950 |
| Gene | TK2 |
| Chromosome | 16 |
| Position | 66,541,937 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
| (C;T) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
| (T;T) | 0 | common in clinvar |
Unaffected in absence of another pathogenic TK2 gene mutation
