rs281865494(T;T)
From SNPedia
TK-2 related mitochondrial depletion syndrome (myopathic) |
Is a | genotype |
of | rs281865494 |
Gene | TK2 |
Chromosome | 16 |
Position | 66,529,027 |
mentioned | by |
Magnitude | 5 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
(T;T) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
see rs281865494