IthaID: 1398
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63564_70978del |
| Hb Name: | Hb Lepore-Baltimore | Protein Info: | δ-β hybrid (δ through 50; β from 86) |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 63564 |
| Size: | 7.398 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Spanish, African, Yugoslavian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Ostertag W, Smith EW, Hemoglobin-Lepore-Baltimore, a third type of a delta, beta crossover (delta 50, beta 86)., European journal of biochemistry / FEBS, 10(2), 371-6, 1969
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-25 16:10:01 (Show full history)
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