IthaID: 1543



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: English II HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 98 kb
Deletion involves: βLCR, ε

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: British
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Rooks H, Bergounioux J, Game L, Close JP, Osborne C, Best S, Senior T, Height S, Thompson R, Hadzic N, Fraser P, Bolton-Maggs P, Thein SL, Heterogeneity of the epsilon gamma delta beta-thalassaemias: characterization of three novel English deletions., British journal of haematology, 128(5), 722-9, 2005 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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