Variant: rs267606614

present in Gene: ATP6;ND4;COX3;ND3;ND4L present in Chromosome: MT Position on Chromosome: 9531 Alleles of this Variant: -/C

rs267606614 in ATP6;ND4;COX3;ND3;ND4L gene and Leigh Disease PMID 11063732 2000 A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.