CYBB
Gene name: cytochrome b-245, beta polypeptideOMIM ID: 300481
Chromosome location: Xp11.4
Mutations
| Disease/Phenotype | Chronic granulomatous disease, X-linked |
|---|---|
| Reference transcript | NM_000397.3 |
| DNA Change | c.1678G>T |
| A.A. Change | p.Gly560X |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA.Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds. J Clin Immunol. 2014 Mar 5. [Epub ahead of print] |
| Disease/Phenotype | Chronic granulomatous disease, X-linked |
|---|---|
| Reference transcript | NM_000397.3 |
| DNA Change | c.674+5G>A |
| A.A. Change | |
| Exon/Intron | intron 6 |
| Mutation Type | substitution |
| Reference | Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA.Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds. J Clin Immunol. 2014 Mar 5. [Epub ahead of print] |
| Disease/Phenotype | Chronic granulomatous disease, X-linked |
|---|---|
| Reference transcript | NM_000397.3 |
| DNA Change | c.676C>T |
| A.A. Change | p.Arg226X |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA.Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds. J Clin Immunol. 2014 Mar 5. [Epub ahead of print] |
| Disease/Phenotype | Chronic granulomatous disease, X-linked |
|---|---|
| Reference transcript | NM_000397.3 |
| DNA Change | c.897+1G>T |
| A.A. Change | |
| Exon/Intron | intron 8 |
| Mutation Type | substitution |
| Reference | Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA.Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds. J Clin Immunol. 2014 Mar 5. [Epub ahead of print] |
| Disease/Phenotype | Chronic granulomatous disease, X-linked |
|---|---|
| DNA Change | large deletion |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA.Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds. J Clin Immunol. 2014 Mar 5. [Epub ahead of print] |
Variant not named according to HGVS recommendations