IthaID: 282


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 105 bp deletion HGVS Name: HBB:c.-74_31del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70521
Size: 105 bp
Deletion involves: 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. Nopparatana C, Panich V, Saechan V, Sriroongrueng V, Nopparatana C, Rungjeadpha J, Pornpatkul M, Laosombat V, Fukumaki Y, The spectrum of beta-thalassemia mutations in southern Thailand., The Southeast Asian journal of tropical medicine and public health, 26(0), 229-34, 1995
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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