Variant: rs137854507 

    present in Gene: SMG7;NCF2
    present in Chromosome: 1
    Position on Chromosome: 183577686
    Alleles of this Variant: G/C

rs137854507 in SMG7;NCF2 gene and Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II PMID 23910690 2013 Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

PMID 16937026 2006 Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.

PMID 8286749 1994 Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.

PMID 20167518 2010 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

PMID 9070911 1997 Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.

PMID 18625437 2008 Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.

PMID 11112388 2000 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

PMID 19624736 2009 Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.

PMID 10598813 1999 Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.

PMID 10498624 1999 Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.