IthaID: 4019
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 27.2 kb deletion (--27.2) | HGVS Name: | NC_00016.10:g.154539_181778delinsTAACA |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: A 27.2-kb deletion and a 5-bp insertion (TAACA) in the α-globin gene cluster identified by MLPA. Breakpoints were predicted by targeted NGS and characterized by Sanger sequencing. The deletion starts downstream of HBZ between chr16:204470-204620 (upstream) and ends downstream of HBQ1 between chr16:231770-231920 (downstream) (GRCh37/hg19). The deletion covers the HBZP1, HBM, HBAP1, HBA1, HBA2, and HBQ1 genes.
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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wang G, Zou S, Li J, Wang X, Wu H, Tao Z, Zhang Q, Xu X, Zhou Y, The diagnosis and molecular analysis of a novel 27.2 kb deletion causing α-thalassemia., Clin Biochem, 116(0), 20-23, 2023
Created on 2023-03-22 16:10:07,
Last reviewed on 2024-02-08 14:41:04 (Show full history)
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