IthaID: 1517


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Thai 11.3 (δβ)0 HGVS Name: NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG
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
HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 11.3 kb
Deletion involves: δ, β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Svasti S, Paksua S, Nuchprayoon I, Winichagoon P, Fucharoen S, Characterization of a novel deletion causing (deltabeta)0-thalassemia in a Thai family., American journal of hematology, 82(2), 155-61, 2007
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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