Variant: rs772751581

present in Gene: OXA1L present in Chromosome: 14 Position on Chromosome: 22769791 Alleles of this Variant: G/T

rs772751581 in OXA1L gene and Mitochondrial Diseases PMID 30201738 2018 OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.