rs281865500(-;AGAA)
From SNPedia
| Carrier of a mitochondrial depletion syndrome mutation |
| Is a | genotype |
| of | rs281865500 |
| Gene | TK2 |
| Chromosome | 16 |
| Position | 66,549,002 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
| (-;AGAA) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
| (AGAA;AGAA) | 0 | common in clinvar |
Unaffected in absence of another pathogenic TK2 gene mutation
