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
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
- 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 PubMed
Created on 2023-01-12 11:39:56,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-01-12 11:39:56 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-24 11:43:02