Variant: rs1554076309 

    present in Gene: ERCC8;NDUFAF2
    present in Chromosome: 5
    Position on Chromosome: 60945264
    Alleles of this Variant: G/A

rs1554076309 in ERCC8;NDUFAF2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID 20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.