Variant: rs1566433812

present in Gene: OXA1L;LOC105370404 present in Chromosome: 14 Position on Chromosome: 22768050 Alleles of this Variant: -/CAGAGCAG

rs1566433812 in OXA1L;LOC105370404 gene and Mitochondrial Diseases PMID 30201738 2018 OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.