IthaID: 1508


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Japanese (δβ)0 HGVS Name: NC_000011.10:g.5132468_5246133del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Deletion of 113666 nts from the Agamma gene to beta gene.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 51483
Size: 113.666 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: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Matsunaga E, Kimura A, Yamada H, Fukumaki Y, Takagi Y, A novel deletion in delta beta-thalassemia found in Japan., Biochemical and biophysical research communications, 126(1), 185-91, 1985
Created on 2010-06-16 16:13:17, Last reviewed on 2021-03-16 16:12:56 (Show full history)

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