IthaID: 3022
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --LOD | HGVS Name: | NC_000016.10:g.(45349_45393)_(262286_262330)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: This deletion spans about 216 kb and involves the entire α-globin gene cluster and the regulatory region (HS-40) of the α-globin gene. The boundaries of the deletion were localized to positions 35349-35393 at the 5'end, and positions 252286-252330 at the 3'end.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Israeli Arab |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Gilad O, Dgany O, Noy-Lotan S, Krasnov T, Elitzur S, Pissard S, Kventsel I, Yacobovich J, Tamary H, Characterization of two unique α-globin gene cluster deletions causing α-thalassemia in Israeli Arabs., Hemoglobin , 38(5), 319-24, 2014
Created on 2016-08-25 16:53:08,
Last reviewed on 2016-08-26 10:57:40 (Show full history)
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