Variant: rs199476123 

    present in Gene: ND2;ND1;COX1
    present in Chromosome: MT
    Position on Chromosome: 3946
    Alleles of this Variant: G/A

rs199476123 in ND2;ND1;COX1 gene and Leigh Disease PMID 15466014 2004 Mutations of the mitochondrial ND1 gene as a cause of MELAS.

PMID 15972314 2006 Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

PMID 16849371 2006 The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

PMID 21364701 2011 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.