Variant: rs150667550

present in Gene: NDUFS2 present in Chromosome: 1 Position on Chromosome: 161210599 Alleles of this Variant: T/C

rs150667550 in NDUFS2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 20819849 2010 The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

PMID 24215330 2013 Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.