IthaID: 320


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --BRIT HGVS Name: NC_000016.10:g.155501_184801del
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: 16364
Size: 26 kb
Deletion involves: α2, α1

Other details

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

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Higgs DR, Ayyub H, Clegg JB, Hill AV, Nicholls RD, Teal H, Wainscoat JS, Weatherall DJ, Alpha thalassaemia in British people., British medical journal (Clinical research ed.), 290(6478), 1303-6, 1985
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.