Variant: rs149718203

present in Gene: CUTC;COX15 present in Chromosome: 10 Position on Chromosome: 99727098 Alleles of this Variant: G/C

rs149718203 in CUTC;COX15 gene and Leigh Disease PMID 21412973 2011 Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

PMID 15863660 2005 Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

PMID 22310368 2012 Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.

PMID 26959537 2016 Leigh syndrome associated with a novel mutation in the COX15 gene.