IthaID: 4060
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --AG | HGVS Name: | NC_000016.10:g.10001_(284537_284542)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Large deletion of about 274 kb spanning from the telomeric region in 5′ the genes POLR3K, RHBDF1, MPG, NPRL3, all the α-globin gene cluster, LUC7L, FAM234A, and RGS11, to the exon 2 of the PDIA2 gene in the 3′. The deletion was identified in a family from Agrigento 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 |
|---|---|
| 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
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
Created on 2023-07-05 14:39:40,
Last reviewed on 2023-07-06 10:57:31 (Show full history)
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