IthaID: 1400
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | N/A |
| Hb Name: | Hb Lepore-Leiden | Protein Info: | δ-β hybrid |
Also known as:
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: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 7.398 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Harteveld CL, Wijermans PW, Arkesteijn SG, Van Delft P, Kerkhoffs JL, Giordano PC, Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype., Hemoglobin, 32(5), 446-53, 2008
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-25 16:11:58 (Show full history)
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