Variant: rs587776513

present in Gene: TACO1 present in Chromosome: 17 Position on Chromosome: 63606395 Alleles of this Variant: -/C

rs587776513 in TACO1 gene and Cytochrome-c Oxidase Deficiency PMID 19503089 2009 Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.