IthaID: 3609

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 20/21 (-TGGA) HGVS Name: HBB:c.62_65delTGGA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in an asymptomatic 39-years old Spanish man with microcytic hypochromic red cells and an increased level of Hb A2 (5.1%). The 4-bp frameshift deletion creates a premature stop codon at the amino acid 60 resulting to a truncated β chain.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70656
Size: 4 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ropero P, González FA, Villas JM, Paúl R, Villegas A, The novo 4 BP deletion in the codons 20/21 (-TGGA) at the first exon of the beta-globin gene causing a beta0-thalassemia in a Spanish male., Ann. Hematol., 87(1), 63-5, 2008 PubMed
Created on 2020-08-10 11:09:29, Last reviewed on (Show full history)

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