IthaID: 1518


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Japanese 2 (δβ)0 HGVS Name: NG_000007.3:g.52036_78987del
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: δβ-thalassaemia
Allele Phenotype:GγAγ(δβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 27 kb
Deletion involves: δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Yamashiro Y, Hattori Y, Okayama N, Shinoda E, Suyama N, Tanaka T, Ohi S, A novel (g)gamma(a)gamma(deltabeta)O-thalassemia with a 27 kb deletion., Hemoglobin, 29(3), 197-208, 2005
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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