IthaID: 1524


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Turkish (Aγδβ)0 HGVS Name: NG_000007.3:g.45410_81665del36256
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: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 45410
Size: 36.211 kb
Deletion involves: , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Tuan D, Feingold E, Newman M, Weissman SM, Forget BG, Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man., Proceedings of the National Academy of Sciences of the United States of America, 80(22), 6937-41, 1983
  2. Henthorn PS, Smithies O, Mager DL, Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints., Genomics, 6(2), 226-37, 1990
Created on 2010-06-16 16:13:17, 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.