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
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
Created on 2024-10-14 11:46:25,
Last reviewed on (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.