rs137854432(C;G)
From SNPedia
Carrier of a mitochondrial depletion syndrome mutation |
Is a | genotype |
of | rs137854432 |
Gene | TK2 |
Chromosome | 16 |
Position | 66,541,951 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
(G;G) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
Unaffected in absence of another pathogenic TK2 gene mutation