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
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
- 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 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-25 16:10:01 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-11-25 16:10:01 | The IthaGenes Curation Team | Reviewed. Haemoglobinopathy corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07