Variant: rs28939711 

    present in Gene: CUTC;COX15
    present in Chromosome: 10
    Position on Chromosome: 99724057
    Alleles of this Variant: G/A

rs28939711 in CUTC;COX15 gene and CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 PMID 12474143 2003 Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

PMID 21412973 2011 Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

rs28939711 in CUTC;COX15 gene and Leigh Disease PMID 15235026 2004 Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.

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