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
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
Created on 2023-03-22 16:46:31,
Last reviewed on 2024-02-08 15:02:38 (Show full history)
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