IthaID: 4061
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| 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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
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)
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