IthaID: 1535



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Irish (εγδβ)0 HGVS Name: NC_000011.8:g.5110112_5312961del
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: 205 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Fortina P, Delgrosso K, Werner E, Haines K, Rappaport E, Schwartz E, Surrey S, A greater than 200 kb deletion removing the entire beta-like globin gene cluster in a family of Irish descent., Hemoglobin, 15(1), 23-41, 1991 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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