Variant: rs587779779 

    present in Gene: PCP2;PET100;XAB2
    present in Chromosome: 19
    Position on Chromosome: 7631476
    Alleles of this Variant: C/T

rs587779779 in PCP2;PET100;XAB2 gene and Congenital lactic acidosis PMID 25293719 2015 A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

rs587779779 in PCP2;PET100;XAB2 gene and Cytochrome-c Oxidase Deficiency PMID 25293719 2015 A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.