Variant: rs757043077 

    present in Gene: NDUFAF5
    present in Chromosome: 20
    Position on Chromosome: 13808873
    Alleles of this Variant: G/T

rs757043077 in NDUFAF5 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 21607760 2012 Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

rs757043077 in NDUFAF5 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID 18940309 2008 Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

PMID 19542079 2010 Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

PMID 21607760 2012 Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.