IthaID: 1510



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Black (δβ)0 HGVS Name: NG_000007.3:g.(60530_60730)_(72351_72551)del11822
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: 60530
Size: 11.767 kb
Deletion involves: δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Anagnou NP, Papayannopoulou T, Stamatoyannopoulos G, Nienhuis AW, Structurally diverse molecular deletions in the beta-globin gene cluster exhibit an identical phenotype on interaction with the beta S-gene., Blood, 65(5), 1245-51, 1985 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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