IthaID: 4058
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --FG | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion is predicted to span about 10 kb on the α-globin locus, removing both α-globin genes. It was reported in a family from Foggia as a heterozygote and together with the -α3.7 deletion. Compound heterozygotes had Hb H disease. The exact breakpoints could not be determined due to the presence of several repetitive sequences.
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: | 10 kb |
| Deletion involves: | ζ, α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
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
- Cardiero G, Musollino G, Prezioso R, Nigro V, Lacerra G, Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster., Int J Mol Sci, 24(3), 0, 2023 PubMed
Created on 2023-07-05 14:35:34,
Last reviewed on 2023-07-05 14:40:43 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-07-05 14:35:34 | The IthaGenes Curation Team | Created |
| 2 | 2023-07-05 14:40:43 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-29 15:59:14