IthaID: 3889
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)Aurora Borealis | HGVS Name: | NC_000016.10:g.(48303_50379)_ (165612_167685)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion removes the complete regulatory region, including HS-40, leaving the downstream α-globin genes intact. A panel of TaqManVR assays (Thermo Fisher Scientific) distributed from POLR3K to HBM showed that the deletion covered a region of minimum 115.2 kb. The characterization of the exact breakpoints of the deletion was unsuccessful, hence the maximum length is 119.4 kb. HGVS name follows the probe-based HGVS Sequence Variant Nomeclature recommendations.
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: | No |
In silico pathogenicity prediction
Publications / Origin
- Grimholt RM, Fjeld B, Klingenberg O, Hemoglobinopathy gone astray-three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing., Scand J Clin Lab Invest, 2021
Created on 2022-02-03 13:01:26,
Last reviewed on (Show full history)
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