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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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).
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
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
Created on 2018-03-31 15:32:47,
Last reviewed on (Show full history)
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