CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 343; N. variants: 75
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344497
rs151344497
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1970859
Disease:
Atypical Mycobacteriosis, Familial, X-Linked 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs151344497
rs151344497
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1970859
Disease:
Atypical Mycobacteriosis, Familial, X-Linked 2 		0.800 GeneticVariation UNIPROT Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. 21278736 2011
dbSNP: rs151344498
rs151344498
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1970859
Disease:
Atypical Mycobacteriosis, Familial, X-Linked 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs151344498
rs151344498
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1970859
Disease:
Atypical Mycobacteriosis, Familial, X-Linked 2 		0.800 GeneticVariation UNIPROT Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. 21278736 2011
dbSNP: rs151344497
rs151344497
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C0018203
Disease:
Chronic granulomatous disease 		C 0.700 CausalMutation CLINVAR Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. 21278736 2011
dbSNP: rs151344498
rs151344498
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C0018203
Disease:
Chronic granulomatous disease 		C 0.700 CausalMutation CLINVAR Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. 21278736 2011
dbSNP: rs137854595
rs137854595
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE Direct DNA sequencing led to the identification of a hemizygous missense novel mutation in CYBB (c.907C>T), which predicts a p.His303Tyr amino-acid substitution in gp91-phox, thus confirming the diagnosis of CGD. 21623884 2011
dbSNP: rs137854596
rs137854596
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE The His303Asn/Pro304Arg gp91 phox transgenic PLB-985 cells exactly mimic the phenotype of the neutrophils of the X(+) CGD patient. 15338276 2004
dbSNP: rs151344456
rs151344456
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE Genetic analysis of a patient with the variant cytochrome b-245-positive form of chronic granulomatous disease revealed a missense mutation resulting in a Arg54-->Ser substitution in the gp91phox subunit of cytochrome b-245. 7713925 1995
dbSNP: rs151344484
rs151344484
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE We previously reported that sarcoplasmic/endoplasmic reticulum calcium pump (SERCA) inhibitors could be used to rescue mutant H338Y-gp91phox protein of a particular type of CGD with a <i>Cybb<sup>C1024T</sup></i> mutation, leading to endoplasmic reticulum (ER) retention of the mutant protein. 31085592 2019
dbSNP: rs193922448
rs193922448
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE Here, we report the case of a teenage girl with X-linked CGD associated with a heterozygous mutation in exon 5 of the CYBB gene (c.389G > C; R130P), which causes skipping of exon 5, resulting in a premature stop codon in exon 6 of CYBB. 30633606 2019
dbSNP: rs782047455
rs782047455
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C0018203
Disease:
Chronic granulomatous disease 		0.010 GeneticVariation BEFREE A novel SRY missense mutation c.347T>C (p.Leu116Ser) was identified in two half-sisters and segregates with the CGD phenotype. 21868002 2011
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. 9888386 1999
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease. 7927345 1994
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676 2000
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. 8916969 1996
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity. 9111587 1997
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT 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. 27666509 2016
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. 18773283 2009
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. 10089913 1999
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. 9585602 1998
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT 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. 11997083 2002
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT 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. 22125116 2012
dbSNP: rs137854585
rs137854585
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
CUI: C1844376
Disease:
Granulomatous Disease, Chronic, X-Linked 		0.800 GeneticVariation UNIPROT A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. 2556453 1989