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rs145034527(C;T)

From SNPedia
Carrier of a coenzyme Q10 deficiency mutation
Is agenotype
ofrs145034527
GeneCOQ8A, ADCK3
Chromosome1
Position226,982,107
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a coenzyme Q10 deficiency mutation
(T;T) 5.6 Possible Coenzyme Q10 Deficiency; severity varies

Unaffected in absence of a second mutation; see coenzyme Q10 deficiency