Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CYBB

Gene name: cytochrome b-245, beta polypeptide
OMIM ID: 300481
Chromosome location: Xp11.4

Mutations

Disease/PhenotypeChronic granulomatous disease, X-linked
Reference transcriptNM_000397.3
DNA Changec.1678G>T
A.A. Changep.Gly560X
Exon/Intronexon 13
Mutation Typesubstitution
ReferenceBaba 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/PhenotypeChronic granulomatous disease, X-linked
Reference transcriptNM_000397.3
DNA Changec.674+5G>A
A.A. Change
Exon/Intronintron 6
Mutation Typesubstitution
ReferenceBaba 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/PhenotypeChronic granulomatous disease, X-linked
Reference transcriptNM_000397.3
DNA Changec.676C>T
A.A. Changep.Arg226X
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceBaba 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/PhenotypeChronic granulomatous disease, X-linked
Reference transcriptNM_000397.3
DNA Changec.897+1G>T
A.A. Change
Exon/Intronintron 8
Mutation Typesubstitution
ReferenceBaba 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/PhenotypeChronic granulomatous disease, X-linked
DNA Changelarge deletion
A.A. Change
Exon/Intron
Mutation Typedeletion
ReferenceBaba 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