Variant: rs267606830 

    present in Gene: FOXRED1
    present in Chromosome: 11
    Position on Chromosome: 126277517
    Alleles of this Variant: A/C;G

rs267606830 in FOXRED1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 25678554 2015 Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.

PMID 20858599 2010 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.