IthaID: 3278

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 1517 bp deletion HGVS Name: HBB:c.-390_316-169delinsA
Hb Name: N/A Protein Info: N/A

Also known as:

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


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70205
Size: 1.517 kb
Deletion involves: β

Other details

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

In silico pathogenicity prediction

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 18:18:39, Last reviewed on 2021-07-14 13:28:28 (Show full history)

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