IthaID: 1552


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Japanese HGVS Name: NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available 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: 1400 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Furuya C, Yamashiro Y, Hattori Y, Hino M, Nishioka H, Shimizu Y, Okano K, Horibe K, A novel epsilon gamma delta beta thalassemia of 1.4 Mb deletion found in a Japanese patient., American journal of hematology, 83(1), 84-6, 2008
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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