IthaID: 3021
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --JAL | HGVS Name: | NC_000016.10:g.(149437_149482)_(179595_179654)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: This deletion spans between 28.9 to 36.5 kb and extends from upstream of the ζ gene to a breakpoint located between the α1- and θ-globin genes. Breakpoints were localized to positions 139436-139481 at the 5' end, and positions 169594-169653 at the 3’ end.
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: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 30 kb |
| Deletion involves: | ζ, α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Israeli Arabs |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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
- 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 PubMed
Created on 2016-08-25 16:51:34,
Last reviewed on 2016-08-26 10:54:08 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-25 16:51:34 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-26 10:54:08 | The IthaGenes Curation Team | Reviewed. Gene information corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07