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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2019-04-09 11:02:03,
Last reviewed on 2021-03-19 13:00:32 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-09 11:02:03 | The IthaGenes Curation Team | Created |
| 2 | 2019-04-09 11:02:51 | The IthaGenes Curation Team | Reviewed. Location added. |
| 3 | 2019-04-09 12:41:01 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2019-04-12 13:31:18 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
| 5 | 2019-05-02 16:48:32 | The IthaGenes Curation Team | Reviewed. Ethnic origin added. |
| 6 | 2021-03-19 13:00:32 | The IthaGenes Curation Team | Reviewed. HGVS name, size, locus and chromosome location corrected. |
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IthaGenes was last updated on 2024-04-18 10:10:45