IthaID: 1539


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Mexican (εγδβ)0 HGVS Name: N/A
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: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 105 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Fearon ER, Kazazian HH, Waber PG, Lee JI, Antonarakis SE, Orkin SH, Vanin EF, Henthorn PS, Grosveld FG, Scott AF, Buchanan GR, The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia., Blood, 61(6), 1269-74, 1983
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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