IthaID: 309


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --SEA HGVS Name: NC_000016.10:g.165401_184701del
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:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 26264
Size: 19.301 kb
Deletion involves: α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Southeast Asian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Pressley L, Higgs DR, Clegg JB, Weatherall DJ, Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional., Proceedings of the National Academy of Sciences of the United States of America, 77(6), 3586-9, 1980
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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