IthaID: 1511



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: East European (δβ)0 HGVS Name: NG_000007.3:g.61566_70708del
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: N/A
Size: 9.124 kb
Deletion involves: δ, β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Palena A, Blau A, Stamatoyannopoulos G, Anagnou NP, Eastern European (delta beta) zero-thalassemia: molecular characterization of a novel 9.1-kb deletion resulting in high levels of fetal hemoglobin in the adult., Blood, 83(12), 3738-45, 1994 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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