IthaID: 3273
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --VS | HGVS Name: | NC_000016.10:g.(100364_105222)_(376261_986851)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans at least 271 kb on the α-globin gene cluster. The 5' breakpoint is located within a ~4.8 kb region in the NPRL3 gene, upstream of the distal regulatory elements, and the 3′ breakpoint is located within a ~610 kb region between the TMEM8A and SOX8 genes.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Portuguese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
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
- Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017 PubMed
Created on 2017-11-08 20:14:54,
Last reviewed on 2017-11-08 20:19:10 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-11-08 20:14:54 | The IthaGenes Curation Team | Created |
| 2 | 2017-11-08 20:19:10 | The IthaGenes Curation Team | Reviewed. Comment edited. |
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IthaGenes was last updated on 2024-04-18 10:10:45