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
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
Created on 2016-09-08 19:03:59,
Last reviewed on 2022-07-13 10:09:51 (Show full history)
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