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 |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
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
Created on 2015-01-12 12:56:31,
Last reviewed on 2015-12-07 10:49:37 (Show full history)
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