Variant: rs121913659 

    present in Gene: NDUFV1
    present in Chromosome: 11
    Position on Chromosome: 67612225
    Alleles of this Variant: C/T

rs121913659 in NDUFV1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 26345448 2015 Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.

PMID 10080174 1999 Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

rs121913659 in NDUFV1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 PMID 11349233 2001 Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

PMID 10080174 1999 Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.