IthaID: 3971
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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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 |
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Hemoglobinopathy Subgroup: | δβ-thalassaemia |
Allele Phenotype: | GγAγ(δβ)0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 58253 |
Size: | 14.585 kb |
Deletion involves: | δ, β |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Tunisian |
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.
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To the best of our knowledge, this is unpublished data.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)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2022-09-08 09:46:38 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-09-28 12:00:32