IthaID: 3073
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Italian (εγδβ)0 deletion | HGVS Name: | NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC] |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 163 kb and involves the entire β-globin gene cluster. The 5′ breakpoint is within a LINE element of 80 kb 3′ of the ε-globin gene, and the 3′ breakpoint is within a 160-bp palindrome of about 30 kb 5′ of the β-globin gene. The carrier shows a beta-thalassemia phenotype with normal Hb A2 and Hb F level.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Italian |
| 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
- Cardiero G, Prezioso R, Dembech S, Del Vecchio Blanco F, Scarano C, Lacerra G, Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)(0)-thalassemia., Hematology , 21(5), 317-24, 2016 PubMed
Created on 2016-09-06 18:42:39,
Last reviewed on 2016-09-07 10:07:05 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-06 18:42:39 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-07 10:07:05 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-29 15:59:14