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
- 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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