IthaID: 3076
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | αααα391 | HGVS Name: | NC_000016.10:g.101440_492029dup |
Also known as:
Comments: The duplication spans about 391 kb and involves the entire α-globin gene cluster, the regulatory region (HS-40) of the α-globin gene and part of the NPRL3 gene, with a breakpoint between 151,483 and 542,029 (GRCh37.p13). Heterozygosity for this duplication defect (6 instead of 4 α-globin genes) associated with a haematologically silent phenotype. Co-inheritance with a β-globin gene defect associated with a β-thalassemia intermedia status.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence 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
- Jiang H, Liu S, Zhang YL, Wan JH, Li R, Li DZ, Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome., Hemoglobin , 39(2), 102-6, 2015 PubMed
Created on 2016-09-08 19:03:59,
Last reviewed on 2022-07-13 10:09:51 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-08 19:03:59 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-08 19:04:53 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-06-25 12:36:10 | The IthaGenes Curation Team | Reviewed. HGVS name and chromosome location added. |
| 4 | 2022-05-24 15:38:45 | The IthaGenes Curation Team | Reviewed. Type of variant corrected. |
| 5 | 2022-07-13 10:09:51 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |
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IthaGenes was last updated on 2024-10-29 15:59:14