IthaID: 4020
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 14.9 kb deletion | HGVS Name: | NC_00016.10:g.168803_183737del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: A 14.9-kb deletion that spans the α-globin gene locus removing both α2 and α1 genes. Identified by single-molecule real-time (SMRT) long-read sequencing (LRS) technology. The exact breakpoints were confirmed by gap-PCR and Sanger sequencing.
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: | 29666 |
| Size: | 14.935 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
- Yuan Y, Zhou X, Deng J, Zhu Q, Peng Z, Chen L, Zou Y, Mao A, Meng W, Ma M, Wu H, Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China., Front Genet, 14(0), 1156071, 2023 PubMed
Created on 2023-03-22 16:46:31,
Last reviewed on 2024-02-08 15:02:38 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-03-22 16:46:31 | The IthaGenes Curation Team | Created |
| 2 | 2024-02-08 15:02:38 | The IthaGenes Curation Team | Reviewed. Locus location added. |
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IthaGenes was last updated on 2024-11-20 13:24:07