Variant: rs762093523 

    present in Gene: NDUFAF6
    present in Chromosome: 8
    Position on Chromosome: 95045546
    Alleles of this Variant: A/-;AA

rs762093523 in NDUFAF6 gene and Movement Disorders PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 18614015 2008 A mitochondrial protein compendium elucidates complex I disease biology.

PMID 27466185 2016 Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.