Mendelian Diseases
Multifactorial Diseases
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

Agammaglobulinemia, X-linked 1

OMIM:300755
Mode of inheritance:X-linked recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolBTK
Reference transcriptNM_000061.2
DNA Changec.487_491delATGGGinsT
A.A. Changep.Met163Serfs*12
Exon/Intronexon 6
Mutation Typeindel
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
Reference transcriptNM_000061.2
DNA Changec.1846C>T
A.A. Changep.Leu616Phe
Exon/Intronexon 18
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
Reference transcriptNM_000061.2
DNA Changec.308A>C
A.A. Changep.Gln103Pro
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
Reference transcriptNM_000061.2
DNA Changec.1939C>T
A.A. Changep.Leu647Phe
Exon/Intronexon 19
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
Reference transcriptNM_000061.2
DNA Changec.82C>T
A.A. Changep.Arg28Cys
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
Reference transcriptNM_000061.2
DNA Changec.336C>A
A.A. Changep.Tyr112*
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
Reference transcriptNM_000061.2
DNA Changec.1455C>G
A.A. Changep.Tyr485*
Exon/Intronexon 15
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
Reference transcriptNM_000061.2
DNA Changec.763C>T
A.A. Changep.Arg255*
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
DNA Changec.975+1G>T
A.A. Change
Exon/Intron
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.
Gene SymbolBTK
Reference transcriptNM_001287345.1
DNA Changec.1750+2T>C
A.A. Change
Exon/Intronintron 17
Mutation Typesubstitution
ReferenceAadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1.

  Variant not named according to HGVS recommendations