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rs281865491(C;T)

From SNPedia
Carrier of a mitochondrial depletion syndrome mutation
Is agenotype
ofrs281865491
GeneTK2
Chromosome16
Position66,531,382
mentionedby
Magnitude3
ReputeBad
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)

Unaffected in absence of another pathogenic TK2 gene mutation