Variant: rs104894555 

    present in Gene: COX10
    present in Chromosome: 17
    Position on Chromosome: 14102205
    Alleles of this Variant: C/A

rs104894555 in COX10 gene and Cytochrome-c Oxidase Deficiency PMID 10767350 2000 A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 12928484 2003 Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.