rs281865497(C;T)
From SNPedia
Carrier of a mitochondrial depletion syndrome mutation |
Is a | genotype |
of | rs281865497 |
Gene | TK2 |
Chromosome | 16 |
Position | 66,513,786 |
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