Variant: rs137853184 

    present in Gene: NDUFAF6
    present in Chromosome: 8
    Position on Chromosome: 95032093
    Alleles of this Variant: A/G

rs137853184 in NDUFAF6 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 PMID 18614015 2008 A mitochondrial protein compendium elucidates complex I disease biology.

PMID 22019594 2011 Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.