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

Thalassemias, beta

OMIM:613985
Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.25_26delAA
A.A. Changep.Lys9ValfsX14
Exon/Intronexon 1
Mutation Typedeletion
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.20delA
A.A. Changep.Glu7GlyfsX13
Exon/Intronexon 1
Mutation Typedeletion
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.92+1G>A
A.A. Change
Exon/Intronintron 1
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.118C>T
A.A. Changep.Gln40X
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.-79A>G
A.A. Change
Exon/Intron5' of the ATG codon
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.-151C>T
A.A. Change
Exon/Intron5' of the ATG codon
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.-78A>G
A.A. Change
Exon/Intron5' of the ATG codon
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.92+2T>C
A.A. Change
Exon/Intronintron 1
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.92+6T>C
A.A. Change
Exon/Intronintron 1
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.93-21G>A
A.A. Change
Exon/Intronintron 1
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.93-1G>A
A.A. Change
Exon/Intronintron 1
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
DNA Change25bp deletion
A.A. Change
Exon/Intronexon 1
Mutation Typedeletion
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.114G>A
A.A. Changep.Trp38X
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.315+1G>A
A.A. Change
Exon/Intronintron 2
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.-240G>A
A.A. Change
Exon/Intron5' of the ATG codon
Mutation Typesubstitution
ReferenceAgouti I, Badens C, Abouyoub A, Levy N, Bennani M.Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.
Genet Test. 2008 Dec;12(4):563-8.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.316-125A>G
A.A. Change
Exon/Intronintron 2
Mutation Typesubstitution
ReferenceAgouti I, Badens C, Abouyoub A, Levy N, Bennani M.Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.
Genet Test. 2008 Dec;12(4):563-8.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.-31C>T
A.A. Change
Exon/Intron5' of the ATG codon
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.

Gene SymbolHBB
Reference transcriptNM_000518.4
DNA Changec.316-106C>G
A.A. Change
Exon/Intronintron 2
Mutation Typesubstitution
ReferenceLemsaddek W, Picanco I, Seuanes F, Nogueira P, Mahmal L, Benchekroun S, Khattab M, Osorio-Almeida L.The beta-thalassemia mutation/haplotype distribution in the moroccan population.
Hemoglobin. 2004 Feb;28(1):25-37.


  Variant not named according to HGVS recommendations