Variant: rs370411488 

    present in Gene: NDUFS1
    present in Chromosome: 2
    Position on Chromosome: 206146957
    Alleles of this Variant: A/G

rs370411488 in NDUFS1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 PMID 19167255 2009 Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

PMID 20382551 2010 Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

PMID 21458341 2011 Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.