Variant: rs387906424 

    present in Gene: ND6;ND5;CYTB
    present in Chromosome: MT
    Position on Chromosome: 14596
    Alleles of this Variant: A/T

rs387906424 in ND6;ND5;CYTB 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.