IthaID: 293


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Cape Verdean HGVS Name: NG_000007.3:g.71548_79271del
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: N/A
Size: 7.7 kb
Deletion involves: β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Andersson BA, Wering ME, Luo HY, Basran RK, Steinberg MH, Smith HP, Chui DH, Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta-globin gene deletion., European journal of haematology, 78(1), 82-5, 2007
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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