IthaID: 3307
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.[63191_70603dup;63291_70703del] |
| Hb Name: | Hb Lepore Rochester-MN | Protein Info: | β-δ hybrid (β through 22; δ from 9) and δ-β hybrid (δ through 22; β from 50) |
Also known as:
Comments: The protein structure is similar to Hb Lepore-Hollandia; however, whereas the latter is regulated by the promoter of the δ-globin gene, this novel variant is regulated by the β-globin gene promoter, thereby resulting in increased protein expression.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | δβ fusion |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63191 |
| Size: | 7.412 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2018-02-06 17:32:51,
Last reviewed on 2018-02-06 17:34:57 (Show full history)
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