IthaID: 291


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Czech HGVS Name: NG_000007.3:g.67258_71501del
Hb Name: N/A Protein Info: N/A

Also known as: 4237 bp deletion

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: N/A
Size: 4.237 kb
Deletion involves: β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Popovich BW, Rosenblatt DS, Kendall AG, Nishioka Y, Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region., American journal of human genetics, 39(6), 797-810, 1986
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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