Variant: rs199476105 

    present in Gene: ND5;CYTB;ND6
    present in Chromosome: MT
    Position on Chromosome: 14459
    Alleles of this Variant: G/A

rs199476105 in ND5;CYTB;ND6 gene and LEBER OPTIC ATROPHY AND DYSTONIA PMID 8016139 1994 A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

PMID 8644732 1996 Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

rs199476105 in ND5;CYTB;ND6 gene and Leigh Disease PMID 10894222 2000 Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

PMID 8016139 1994 A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

PMID 8622678 1996 Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.