Variant: rs118203955

present in Gene: PDSS2 present in Chromosome: 6 Position on Chromosome: 107210483 Alleles of this Variant: G/A;C

rs118203955 in PDSS2 gene and COENZYME Q10 DEFICIENCY, PRIMARY, 3 PMID 17374725 2007 Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.