IthaID: 4061
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | --Puglia | HGVS Name: | NC_000016.10:g.(54016_55432)_(220780_223388)del |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The size of the deletion is predicted between 165 bp and 169 kb removing a region containing MPG, NPRL3, and all the α-globin gene cluster, to about 3/4 of the LUC7L gene. The breakpoints could not be determined due to the presence of several repetitive elements. The 5′ undefined region is between position 54,016 up to 55,432, and the 3′ undefined region is between position 220,780 up to 223,388 (GRCh38). The deletion was identified in a family from Puglia and was associated with α0-thalassemia and not the ATR-16 syndrome.
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: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Deletion |
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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 14:45:35,
Last reviewed on 2024-02-13 16:04:02 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2023-07-05 14:45:35 | The IthaGenes Curation Team | Created |
2 | 2023-07-05 14:49:02 | The IthaGenes Curation Team | Reviewed. Comment |
3 | 2023-07-06 10:58:16 | The IthaGenes Curation Team | Reviewed. Comment update |
4 | 2024-02-13 16:04:02 | The IthaGenes Curation Team | Reviewed. HGVS name added. |
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IthaGenes was last updated on 2024-12-12 10:33:52