Variant: rs28616230 

    present in Gene: ND1;ND2;COX1
    present in Chromosome: MT
    Position on Chromosome: 4171
    Alleles of this Variant: C/A;T

rs28616230 in ND1;ND2;COX1 gene and Optic Atrophy, Hereditary, Leber PMID 24884847 2014 Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

PMID 19555656 2009 Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.

PMID 12112111 2002 Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.

PMID 15972314 2006 Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

PMID 22879922 2012 Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.