IthaID: 1509



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Spanish (δβ)0 HGVS Name: NG_000011.10:g.5144331_5237241del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:GγAγ(δβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 60375
Size: 95 kb
Deletion involves: δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: Spain
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Feingold EA, Forget BG, The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the beta-globin gene cluster., Blood, 74(6), 2178-86, 1989 PubMed
  2. Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2021-03-16 16:56:08 (Show full history)

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