Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs137886900(A;G)

From SNPedia
Carrier of a mitochondrial depletion syndrome mutation
Is agenotype
ofrs137886900
GeneTK2
Chromosome16
Position66,517,207
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 5 TK-2 related mitochondrial depletion syndrome (myopathic)
(A;G) 3 Carrier of a mitochondrial depletion syndrome mutation
(G;G) 0 common in clinvar

Unaffected in absence of another pathogenic TK2 gene mutation