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
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
- 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 PubMed
Created on 2023-03-22 16:10:07,
Last reviewed on 2024-02-08 14:41:04 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-03-22 16:10:07 | The IthaGenes Curation Team | Created |
| 2 | 2023-03-22 16:12:12 | The IthaGenes Curation Team | Reviewed. Comment added |
| 3 | 2024-02-08 14:41:04 | The IthaGenes Curation Team | Reviewed. Locus location added. |
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IthaGenes was last updated on 2024-10-29 15:59:14