IthaID: 3265
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | α-globin cluster triplication | HGVS Name: | NC_000016.10:g.(53322_113530)_(181203_206337)dup |
Also known as:
Comments: Triplication of the entire α-globin gene cluster and the regulatory region (HS-40) of the α-globin gene. Found in combination with heterozygous β-thalassaemia, resulting in a clinical presentation of thalassaemia intermedia. Identified by whole exome sequencing.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Eastern-European & Ashkenazi Jew |
| Molecular mechanism: | N/A |
| Inheritance: | N/A |
| DNA Sequence 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
- Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, Krasnov T, Attias D, Dgany O, Laor R, Sankaran VG, Tamary H, Whole exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia., Cold Spring Harb Mol Case Stud , 2017 PubMed
Created on 2017-09-27 17:50:12,
Last reviewed on 2021-12-01 08:38:27 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-09-27 17:50:12 | The IthaGenes Curation Team | Created |
| 2 | 2021-07-27 18:36:54 | The IthaGenes Curation Team | Reviewed. Thalassaemia type corrected. |
| 3 | 2021-12-01 08:38:27 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07