IthaID: 4082
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --LAMPHUN | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: 27 kb deletion with 9 bp insertion (Lamphun deletion)
Comments: The Lamphun deletion spans 27 kb on the α-globin gene locus and removes both functional α-globin genes, HBA2 and HBA1, as well as HBZP1, HBM, HBAP1, and HBQ. It was detected in a young male with deletional HbH disease.
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: | 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
- Khamphikham P, Tepakhan W, Tongjai S, Jan-Ngam V, Laonan A, Thimsin W, Boontha S, Santiyos S, Pornprasert S, Identification of a novel and rare α -thalassemia 27.0 kb deletion with 9 bp insertion (Lamphun deletion; -- ) in a Thai family., Int J Lab Hematol, 2023 PubMed
Created on 2023-11-22 10:40:31,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-11-22 10:40:31 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07