Variant: rs794726857 

    present in Gene: ATP6;ATP8;ND4L;ND3;COX3;ND4
    present in Chromosome: MT
    Position on Chromosome: 8969
    Alleles of this Variant: G/A

rs794726857 in ATP6;ATP8;ND4L;ND3;COX3;ND4 gene and MELAS Syndrome PMID 25037980 2014 Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

PMID 27812026 2016 Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.

PMID 29350304 2018 Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.