IthaID: 2550
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | African I duplication | HGVS Name: | NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677 |
Also known as:
Comments: The variant was present in conjunction with the a3.7 Kb deletion (ithaID: 300) and the HbS mutation (ithaID: 824). The phenotype associated with this genetic variant is likely to be silent (normal haematology) when not present with other haemoglobinopathy mutations.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | African |
| 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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Publications / Origin
- Shooter C, Senior McKenzie T, Oakley M, Jacques T, Clark B, Thein SL, First reported duplication of the entire beta globin gene cluster causing an unusual sickle cell trait phenotype., Br. J. Haematol. , 2014 PubMed
Created on 2015-01-12 12:56:31,
Last reviewed on 2015-12-07 10:49:37 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2015-01-12 12:56:31 | The IthaGenes Curation Team | Created |
| 2 | 2015-12-07 10:49:37 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07