IthaID: 2264
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --Brazil | HGVS Name: | NC_000016.10:g.(?_55799)_(986613_1063737)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: No learning difficulties reported
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Bezerra MA, Araujo AS, Phylipsen M, Balak D, Kimura EM, Oliveira DM, Costa FF, Sonati MF, Harteveld CL, The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil., Br. J. Haematol. , 142(2), 324-6, 2008
Created on 2013-10-04 10:45:11,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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