IthaID: 2570
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Sardinian duplication | HGVS Name: | N/A |
Also known as:
Comments: The duplication, spanning at least 170 kb, includes the α-globin genes and the regulatory elements MCS-R1, MCS-R2(HS40), MCS-R3 and MCS-R4.
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: | Sardinian |
| 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
- Sollaino MC, Paglietti ME, Perseu L, Giagu N, Loi D, Galanello R, Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia., Haematologica , 94(10), 1445-8, 2009 PubMed
Created on 2015-12-08 10:58:46,
Last reviewed on 2021-12-01 08:37:13 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2015-12-08 10:58:46 | The IthaGenes Curation Team | Created |
| 2 | 2021-12-01 08:37:13 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |
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IthaGenes was last updated on 2024-10-29 15:59:14