Variant: rs144071404 

    present in Gene: CYB5R3
    present in Chromosome: 22
    Position on Chromosome: 42619922
    Alleles of this Variant: C/T

rs144071404 in CYB5R3 gene and Congenital Methemoglobinemia PMID 21349748 2011 Molecular basis of two novel mutations found in type I methemoglobinemia.

PMID 16310381 2006 Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.

PMID 12756024 2003 Compound heterozygosity of two missense mutations in the NADH-cytochrome b5 reductase gene of a Polish patient with type I recessive congenital methaemoglobinaemia.

PMID 11159544 2001 Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.

PMID 11295830 2001 Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.