IthaID: 2185

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 8/9 +AGAA HGVS Name: HBB:c.27_28insAGAA
Hb Name: N/A Protein Info: β 7(+AGAA); modified C-terminal sequence: (7)Glu-Glu-Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly- Gln-Gly-Glu-Arg-Gly-(23)COOH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70620
Size: 4 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Georgel AF, Méreau C, Willekens C, Bourgeois E, Maboudou P, Crépin M, Pissard S, Rose C, Identification of a new mutation on the beta-globin gene: codons 8/9 (+AGAA); GAG.AAG.TCT(Glu-Lys-Ser)>GAG. AAAGAAG, in a patient from the north of France with a phenotype of beta-thalassemia minor., Hemoglobin , 34(4), 389-93, 2010 PubMed
  2. Marchi N, Pissard S, Cliquennois M, Vasseur C, Le Metayer N, Mereau C, Jouet JP, Georgel AF, Genin E, Rose C, Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))., Eur. J. Hum. Genet. , 2014 PubMed
Created on 2013-09-30 16:41:45, Last reviewed on 2015-01-09 10:31:21 (Show full history)

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