Variant: rs199476119

present in Gene: ND2;ND1;COX1 present in Chromosome: MT Position on Chromosome: 4160 Alleles of this Variant: T/C

rs199476119 in ND2;ND1;COX1 gene and Optic Atrophy, Hereditary, Leber PMID 1674640 1991 A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

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

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

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

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