Variant: rs199474827 

    present in Gene: ATP8;COX3;ATP6;COX1;COX2
    present in Chromosome: MT
    Position on Chromosome: 7671
    Alleles of this Variant: T/A

rs199474827 in ATP8;COX3;ATP6;COX1;COX2 gene and Cytochrome-c Oxidase Deficiency PMID 10486321 1999 A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.