IthaID: 4095
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --Guigang (145 kb deletion) | HGVS Name: | NC_000016.10:g.127815_273190del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The 145 kb deletion found in a Chinese (Guigang) boy by third-generation sequencing on the α-globin chain and its breakpoints were confirmed by Sanger sequencing analysis. Capillary electrophoresis of the cord blood showed high Hb Bart’s (γ4) level (3%). The large deletion removed the entire α-globin locus and expand from NPRL3 to RGS11 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2024-03-27 | First report. |
Created on 2024-03-28 09:17:36,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2024-03-28 09:17:36 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-24 11:43:02