IthaID: 3394


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 223 kb deletion HGVS Name: NC_000011.10:g.5010012_5232933del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 223 kb on the β-globin gene cluster, extending from the 3′UTR of the δ-globin gene to 215 kb downstream of the β-globin gene. Analysis method: SALSA MLPA P102 HBB kit (MRC Holland).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64683
Size: 222.925 kb
Deletion involves: δ, β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Zhu F, Wei X, Cai D, Pang D, Zhong J, Liang M, Zuo Y, Xu X, Shang X, A novel 223 kb deletion in the beta-globin gene cluster was identified in a Chinese thalassemia major patient., Int J Lab Hematol, 2019
Created on 2019-04-09 11:02:03, Last reviewed on 2021-03-19 13:00:32 (Show full history)

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