IthaID: 3971
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Tunisian (δβ)0 | HGVS Name: | NG_000007.3:g.58253_72837del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in homozygosity in a 7-year-old female.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 58253 |
| Size: | 14.585 kb |
| Deletion involves: | δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Tunisian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Miniar, Kalai | 2022-09-07 | First report. |
| 2 | Moumni, Imen | 2022-09-07 | First report. |
| 3 | Menif, Samia | 2022-09-07 | First report. |
Created on 2022-09-08 09:46:38,
Last reviewed on (Show full history)
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