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rs138439950(C;T)

From SNPedia
Carrier of a mitochondrial depletion syndrome mutation
Is agenotype
ofrs138439950
GeneTK2
Chromosome16
Position66,541,937
mentionedby
Magnitude3
ReputeBad
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