IthaID: 3945
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 15.8 kb deletion | HGVS Name: | NC_000016.10:g.163886_179768del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: NG_000006.1:g.24749_40631del
Comments: The deletion spans exactly 15.883 kb on the α-globin gene cluster as determined by long-read single-molecule real-time (SMRT) sequencing. The 5' breakpoint lies in the HBZP1 gene (Chr16:163886) and the 3' breakpoint lies between the HBA2 and HBQ1 genes (Chr16:179768), removing both functional α-globin genes, HBA2 and HBA1. The proband, a 37-year-old female, displayed abnormal values of routine hematological indices.
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 |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 24749 |
| Size: | 15.883 kb |
| Deletion involves: | α2, α1, HBM |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| 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
- Zhong Z, Zhong G, Guan Z, Chen D, Wu Z, Yang K, Chen D, Liu Y, Xu R, Chen J, A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization., Clin Biochem, 2022 PubMed
Created on 2022-07-27 12:56:18,
Last reviewed on 2023-01-19 13:05:33 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-07-27 12:56:18 | The IthaGenes Curation Team | Created |
| 2 | 2023-01-19 13:05:09 | The IthaGenes Curation Team | Reviewed. HGVS Chr added, Comment added. |
| 3 | 2023-01-19 13:05:33 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-29 15:59:14