IthaID: 3996

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 4.9 Kb deletion HGVS Name: NC_000011.10:g5226187_5231089del
Hb Name: N/A Protein Info: N/A

Also known as: NG_000007.3:g.71429_76331del

Comments: The deletion spans approximately 4.9 kb on the β-globin gene cluster, removing the HBB gene. Identified in a Chinese proband, a 27-year-old female with abnormal values of routine hematological indices, by third-generation sequencing (TGS), and validated by MLPA.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71429
Size: 4.903 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. Chen X, Luo M, Pan L, Huang Y, Yan Z, Shen K, Mai G, Liang H, Li J, Chen Y, Xiong L, A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: Case report from Baoan, China., Clin Chim Acta, 529(0), 10-16, 2022 PubMed
Created on 2023-01-12 10:53:21, Last reviewed on 2024-02-12 15:36:31 (Show full history)

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