Variant: rs121434427

present in Gene: NDUFS2 present in Chromosome: 1 Position on Chromosome: 161209912 Alleles of this Variant: G/A

rs121434427 in NDUFS2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 PMID 11220739 2001 Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.