IthaID: 3998
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --259 | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Co-inherited with α0-thalassemia (SEA deletion) in a lethal fetus with Hb Bart's hydrops fetalis syndrome.
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 |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 259 kb |
| Deletion involves: |
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
- Zhu D, Xu L, Zhang Y, Liang G, Wei X, Li L, Jin W, Shang X, Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review., Mol Genet Genomics, 298(1), 131-141, 2023
Created on 2023-01-12 11:39:56,
Last reviewed on (Show full history)
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