IthaID: 3994
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 10.3 kb deletion | HGVS Name: | NC_000016.10:g.172342_182690del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 10.3 kb on the α-globin gene cluster, covering HBA2, HBA1 and HBAQ1 genes. Identified in two families from China by third-generation sequencing (TGS), and validated by Sanger sequencing and MLPA.
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33205 |
| Size: | 10.349 kb |
| Deletion involves: | α2, α1 |
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
- Xu R, Li H, Yi S, Du J, Jin J, Qin Y, Jiang Y, Gao T, Zhang C, Yi M, Liu Y, Meng W, Li J, Song J, Identification of a novel 10.3 kb deletion causing α-thalassemia by the third-generation sequencing: pedigree analysis and genetic diagnosis., Clin Biochem, 2023 PubMed
Created on 2023-01-12 09:24:06,
Last reviewed on 2024-02-08 14:26:42 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-01-12 09:24:06 | The IthaGenes Curation Team | Created |
| 2 | 2023-03-20 12:05:36 | The IthaGenes Curation Team | Reviewed. Reference |
| 3 | 2024-02-08 14:26:42 | The IthaGenes Curation Team | Reviewed. Locus location added. |
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IthaGenes was last updated on 2024-11-20 13:24:07