Variant: rs199476118 

    present in Gene: ND1;ND2
    present in Chromosome: MT
    Position on Chromosome: 3460
    Alleles of this Variant: G/A

rs199476118 in ND1;ND2 gene and Leigh Disease PMID 12205655 2002 Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

rs199476118 in ND1;ND2 gene and Optic Atrophy, Hereditary, Leber PMID 1674640 1991 A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

PMID 1928099 1991 Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

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 2018041 1991 Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

PMID 1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.