|
rs104894515
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
|
20167518 |
2010 |
|
rs104894515
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Binding of the p47-phox SH3 domains to p22-phox was abolished by a mutation in one proline-rich sequence (Pro156-->Gln) noted in a distinct form of chronic granulomatous disease and was inhibited by a short proline-rich synthetic peptide corresponding to residues 149-162 of p22-phox.
|
7938008 |
1994 |
|
rs151344497
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
|
21278736 |
2011 |
|
rs151344498
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
|
21278736 |
2011 |
|
rs387906808
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.
|
19692703 |
2009 |
|
rs869025585
|
|
AAAGGAGGATC |
0.700 |
CausalMutation |
CLINVAR |
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.
|
19692703 |
2009 |
|
rs4029402
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs145360423
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In Kavkazi Jews, a c.579G>A (p.Trp193Ter) mutation in <i>NCF1</i> is frequently found, leading to CGD.
|
29331982 |
2018 |
|
rs145360423
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Genetically confirmed individuals included 1 patient with XL-CGD (a large deletion involving the CYBB and XK genes resulting in a McLeod phenotype), 27 patients with AR-CGD with a c.579G>A (p.Trp193X) mutation at the NCF1 gene, and 4 patients with AR-CGD with a c.784G>A (p.Gly262Ser) mutation at the NCF1 gene.
|
29947158 |
2018 |
|
rs145360423
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
|
29411231 |
2018 |
|
rs1428754151
|
|
|
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 |
|
rs151344484
|
|
|
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 |
|
rs193922448
|
|
|
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 |
|
rs1489201208
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetically confirmed individuals included 1 patient with XL-CGD (a large deletion involving the CYBB and XK genes resulting in a McLeod phenotype), 27 patients with AR-CGD with a c.579G>A (p.Trp193X) mutation at the NCF1 gene, and 4 patients with AR-CGD with a c.784G>A (p.Gly262Ser) mutation at the NCF1 gene.
|
29947158 |
2018 |
|
rs1049254
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.
|
29132304 |
2017 |
|
rs1049255
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.
|
29132304 |
2017 |
|
rs4673
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.
|
29132304 |
2017 |
|
rs137854595
|
|
|
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 |
|
rs782047455
|
|
|
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 |
|
rs137854596
|
|
|
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 |
|
rs778501379
|
|
|
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 |
|
rs119103274
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Surprisingly, the A128V CGD mutant is able to fully activate the NADPH oxidase in vitro at 25 degrees C. However, this point mutation represents a temperature-sensitive defect in p67(phox) that explains its phenotype at physiological temperature.
|
11262407 |
2001 |
|
rs137878529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.
|
9070911 |
1997 |
|
rs267606912
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.
|
9070911 |
1997 |
|
rs1221526082
|
|
|
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 |