Variant: rs199476112 

    present in Gene: ND4;ND5
    present in Chromosome: MT
    Position on Chromosome: 11778
    Alleles of this Variant: G/A

rs199476112 in ND4;ND5 gene and Optic Atrophy, Hereditary, Leber PMID 1959619 1991 Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

PMID 3201231 1988 Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

PMID 1959931 1991 Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.

PMID 9452107 1998 Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

PMID 1937476 1991 Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.