Variant: rs137854585 

    present in Gene: CYBB
    present in Chromosome: X
    Position on Chromosome: 37805098
    Alleles of this Variant: C/A;T

rs137854585 in CYBB gene and Granulomatous Disease, Chronic, X-Linked PMID 10089913 1999 Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.

PMID 11462241 2001 Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

PMID 7927345 1994 Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.

PMID 9667376 1998 Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.

PMID 9111587 1997 An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.

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

PMID 8182143 1994 A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.

PMID 9888386 1999 Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.

PMID 9794433 1998 Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.

PMID 27666509 2016 A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections.

PMID 8101486 1993 A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.

PMID 11997083 2002 Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

PMID 8916969 1996 Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.

PMID 2556453 1989 A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.

PMID 9585602 1998 X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

PMID 18773283 2009 First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.

PMID 1710153 1991 Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

PMID 22125116 2012 Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease.

PMID 23910690 2013 Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

PMID 15338276 2004 Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.