IthaID: 4109
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63511_70924del |
| Hb Name: | Hb Lepore-Quanzhou | Protein Info: | δβ hybrid |
Also known as:
Comments: The large deletion partially covers HBB and HBD globin genes and may cause δβ-thalassemia in the Quanzhou region of Southeast China.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | β0 δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63511 |
| Size: | 7.414 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence 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
- Jianlong Zhuang, Junyu Wang, Nan Huang, Yu Zheng and Liangpu Xu, Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region, BMC Medical Genomics, 17(241), 0, 2024 PubMed
Created on 2024-10-14 11:46:25,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2024-10-14 11:46:25 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07