Variant: rs606231426

present in Gene: LBHD1;UQCC3 present in Chromosome: 11 Position on Chromosome: 62671804 Alleles of this Variant: T/A

rs606231426 in LBHD1;UQCC3 gene and MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 PMID 25008109 2014 A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.