Variant: rs104894515 

    present in Gene: CYBA
    present in Chromosome: 16
    Position on Chromosome: 88643474
    Alleles of this Variant: G/T

rs104894515 in CYBA gene and Chronic granulomatous disease PMID 20167518 2010 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

rs104894515 in CYBA gene and Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative PMID 23910690 2013 Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

PMID 2243141 1990 Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.

PMID 8168815 1994 Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.

PMID 10759707 2000 Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.

PMID 1415254 1992 Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).

PMID 10910929 2000 Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).

PMID 18422995 2008 Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.

PMID 10914676 2000 Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

PMID 7964505 1994 156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox.

PMID 1763037 1991 Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.