IthaID: 3327
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --GX | HGVS Name: | NC_000016.10:g.(41492_43628)_(247888_254167)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Reported in a fetus with Hb Bart's hydrops fetalis that also carried the --SEA deletion. The deletion --GX (Guangxi) covers approximately 204 kb, removing the entire α-globin gene cluster, as well as the HS-40 control region. The 5' breakpoint is located just upstream of the POLR3K gene between positions 91492 and 93628, and the 3' breakpoint is located within the ITFG3 gene between positions 297887 and 304166 (GRCh37/hg19).
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: | No |
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
- He S, Li J, Huang P, Zhang S, Lin L, Zuo Y, Tian X, Zheng C, Qiu X, Chen B, Characterization of Hb Bart's Hydrops Fetalis Caused by - -and a Large Novel α-Thalassemia Deletion., Hemoglobin , 2018 PubMed
Created on 2018-03-31 15:32:47,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-03-31 15:32:47 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-18 10:10:45