IthaID: 4066

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 10.8 kb deletion HGVS Name: NC_000011.10:g.5216601_5227407del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 10.8 kb on the beta-globin gene locus removing the whole HBB gene. Deletion breakpoints were determined by long-read sequencing and were confirmed by MLPA and GapPCR methods. Heterozygosity occurs with beta-thalassemia minor.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70209
Size: 10.807 kb
Deletion involves: β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Shao M, Wan Y, Cao W, Yang J, Cui D, Ma M, Hu W, Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results., Front Med (Lausanne), 10(0), 1192279, 2023 PubMed
Created on 2023-08-04 12:08:13, Last reviewed on 2024-02-09 13:21:19 (Show full history)

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