Variant: rs199476104 

    present in Gene: ND6;CYTB;ND5
    present in Chromosome: MT
    Position on Chromosome: 14484
    Alleles of this Variant: T/C

rs199476104 in ND6;CYTB;ND5 gene and Leigh Disease PMID 12205655 2002 Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

rs199476104 in ND6;CYTB;ND5 gene and Optic Atrophy, Hereditary, Leber PMID 9452107 1998 Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

PMID 11133798 2001 The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

PMID 8854108 1996 Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

PMID 8470982 1993 Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.

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

PMID 10447650 1999 Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.