IthaID: 3277



Names and Sequences

Functionality: Globin gene causative mutation
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

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.

External Links

No available links

Location

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

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Vietnamese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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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)

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