IthaID: 1535



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Irish (εγδβ)0 HGVS Name: NC_000011.8:g.5110112_5312961del
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 205 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Irish
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Fortina P, Delgrosso K, Werner E, Haines K, Rappaport E, Schwartz E, Surrey S, A greater than 200 kb deletion removing the entire beta-like globin gene cluster in a family of Irish descent., Hemoglobin, 15(1), 23-41, 1991 PubMed
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.

Please publish modules in offcanvas position.