IthaID: 78

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 17 (+A) HGVS Name: HBB:c.53dup
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: The insertion found in an Italian girl associated with the deletion of the 13.4-kb δβ-globin gene region. The insertion of a nt A in codon 17 creates a shift in the reading frame with a premature stop codon at codon 22 (TGA).

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: 70647
Size: 1 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: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Feriotto G, Salvatori F, Finotti A, Breveglieri G, Venturi M, Zuccato C, Bianchi N, Borgatti M, Lampronti I, Mancini I, Massei F, Favre C, Gambari R, A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia., Acta haematologica, 119(1), 28-37, 2008 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2020-05-05 10:46:07 (Show full history)

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