IthaID: 3278



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 1517 bp deletion HGVS Name: HBB:c.-390_316-169delinsA | NG_000007.3: g.70205_ 71721delinsA
Hb Name: N/A Protein Info: N/A

Comments: The deletion removes the β-globin promoter, 5' untranslated region (5'UTR), exons 1 and 2, and most of the IVS-II. The total length of the deletion is 1517 bp, with a single base insertion (+A) at the junction.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70205
Size: 1.517 kb
Located at: β
Specific Location: N/A

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: European
Inheritance: Recessive
DNA Sequence 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. Waye JS, Hanna M, Hohenadel BA, Nakamura L, Walker L, Eng B, Characterization of Two Novel Deletions Involving the 5' Region of the β-Globin Gene., Hemoglobin , 2017 PubMed
Created on 2017-12-11 18:18:39, Last reviewed on (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.