Database

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

HBB

Gene name: hemoglobin, beta
OMIM ID: 141900
Chromosome location: 11p15.4

Mutations

Disease/Phenotype	Thalassemias, beta
DNA Change	25bp deletion
A.A. Change
Exon/Intron	exon 1
Mutation Type	deletion
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.-151C>T
A.A. Change
Exon/Intron	5' of the ATG codon
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.-240G>A
A.A. Change
Exon/Intron	5' of the ATG codon
Mutation Type	substitution
Reference	Agouti 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.-31C>T
A.A. Change
Exon/Intron	5' of the ATG codon
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.-78A>G
A.A. Change
Exon/Intron	5' of the ATG codon
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.-79A>G
A.A. Change
Exon/Intron	5' of the ATG codon
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.114G>A
A.A. Change	p.Trp38X
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.118C>T
A.A. Change	p.Gln40X
Exon/Intron	exon 1
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.20delA
A.A. Change	p.Glu7GlyfsX13
Exon/Intron	exon 1
Mutation Type	deletion
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.25_26delAA
A.A. Change	p.Lys9ValfsX14
Exon/Intron	exon 1
Mutation Type	deletion
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.315+1G>A
A.A. Change
Exon/Intron	intron 2
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.316-106C>G
A.A. Change
Exon/Intron	intron 2
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.316-125A>G
A.A. Change
Exon/Intron	intron 2
Mutation Type	substitution
Reference	Agouti 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.92+1G>A
A.A. Change
Exon/Intron	intron 1
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.92+2T>C
A.A. Change
Exon/Intron	intron 1
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.92+6T>C
A.A. Change
Exon/Intron	intron 1
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.93-1G>A
A.A. Change
Exon/Intron	intron 1
Mutation Type	substitution
Reference	Lemsaddek 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.

Disease/Phenotype	Thalassemias, beta
Reference transcript	NM_000518.4
DNA Change	c.93-21G>A
A.A. Change
Exon/Intron	intron 1
Mutation Type	substitution
Reference	Lemsaddek 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

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