IthaID: 4015
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --259 | HGVS Name: | NC_000016.10:g.27301_286500del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The heterozygous deletion of approximately 259 kb includes the entire α-globin gene cluster. It was detected by NGS in the region chr16: 27,301–286,500 (hg38), but the exact breakpoints were not determined. The deletion was found together with α0-thalassemia (SEA deletion) in a lethal fetus with Hb Bart's hydrops fetalis syndrome. The mother and grandmother of the fetus were heterozygous carriers for this deletion.
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
- 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 2023-02-07 10:39:21,
Last reviewed on 2023-02-07 11:32:21 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-02-07 10:39:21 | The IthaGenes Curation Team | Created |
| 2 | 2023-02-07 10:41:15 | The IthaGenes Curation Team | Reviewed. Comment, Location info, Reference added |
| 3 | 2023-02-07 10:41:40 | The IthaGenes Curation Team | Reviewed. Common name |
| 4 | 2023-02-07 11:26:26 | The IthaGenes Curation Team | Reviewed. Text edits |
| 5 | 2023-02-07 11:32:21 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-04-18 10:10:45