IthaID: 3277

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 538 bp deletion HGVS Name: HBB:c.-464_74del | NG_000007.3:g.70131_70668del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 538 bp and removes the β-globin promoter, 5' untranslated region (5'UTR) and most of exon 1. The 5' deletion breakpoint is at position -464 relative to the translation initiation codon (position +1 is A of the ATG), and the 3' breakpoint is within amino acid codon 26.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70131
Size: 538 bp
Deletion involves: β

Other details

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

In silico pathogenicity prediction

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 18:08:32, Last reviewed on 2018-01-08 19:15:59 (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.