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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
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 16:51:34,
Last reviewed on 2016-08-26 10:54:08 (Show full history)
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