IthaID: 3938
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 120.5 kb dup | HGVS Name: | NC_000016.10:g.98546_219042del |
Also known as:
Comments: The duplication includes the entire α-globin locus.
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: | Syrian/Iraqi |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| 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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In such a case, please Refresh the page or retry at a later stage.
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Publications / Origin
- Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL, Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis., Br J Haematol, 180(1), 160-164, 2018 PubMed
Created on 2022-06-16 15:36:19,
Last reviewed on 2022-06-16 15:53:00 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-06-16 15:36:19 | The IthaGenes Curation Team | Created |
| 2 | 2022-06-16 15:53:00 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-04-18 10:10:45