IthaID: 3823
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 60 kb deletion | HGVS Name: | NC_000011.10:g.5167971_5228123delinsA |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: Prachinburi β0-thalassemia deletion
Comments: Found in a 40-year old male in combination with two KLF1 polymorphisms rs2072597(A>G), rs3817621(G>C)A and XmnI polymorphism rs7482144(G>A) on the γ-globin gene. The 60 kb deletion removed only the β-globin gene whereas the δ-and γ-globin genes were present. Hemoglobin analysis by capillary electrophoresis shown elevated levels of HbA2 and HbF.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 69493 |
| Size: | 60.151 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Thai |
| 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.
Sequence Viewer
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Publications / Origin
- Jomoui W, Tepakhan W, Characterization and identification of Prachinburi β -thalassemia: A novel-60 kb deletion in beta globin gene related to high levels of Hb F in heterozygous state., Int J Lab Hematol, 2021 PubMed
Created on 2021-07-16 12:53:47,
Last reviewed on 2021-07-16 12:54:40 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-07-16 12:53:47 | The IthaGenes Curation Team | Created |
| 2 | 2021-07-16 12:54:40 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-10-29 15:59:14