IthaID: 2568
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | FD duplication | HGVS Name: | NC_000016.10:g.55826_(185840_187594)dup |
Also known as:
Comments: A complete duplication of the α-globin gene cluster on the other allele spanning a 175 kb region from the telomere to the 3′HVR downstream of the α-globin genes. This duplication defect in addition to a anti-3.7 triplication, brings the expression of the α-globin genes from the normal 4 to a total of 7, explaining the severe-intermediate status of this patient.
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: | N/A |
| 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
- Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC, Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients., Blood Cells Mol. Dis. , 40(3), 312-6, 2008 PubMed
Created on 2015-12-07 11:19:17,
Last reviewed on 2021-12-01 08:36:22 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2015-12-07 11:19:17 | The IthaGenes Curation Team | Created |
| 2 | 2015-12-08 17:19:21 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-12-01 08:36:22 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07