IthaID: 305


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α5.3 HGVS Name: NG_000006.1:g.28684_33930del5246
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: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 28684
Size: 5.246 kb
Deletion involves: α2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Lacerra G, Fioretti G, De Angioletti M, Pagano L, Guarino E, de Bonis C, Viola A, Maglione G, Scarallo A, De Rosa L, (Alpha)alpha 5.3: a novel alpha(+)-thalassemia deletion with the breakpoints in the alpha 2-globin gene and in close proximity to an Alu family repeat between the psi alpha 2- and psi alpha 1-globin genes., Blood, 78(10), 2740-6, 1991
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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