IthaID: 3340
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Brazilian (εγδβ)0 | HGVS Name: | NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion length is estimated to be between 172-283 kb (positions 5129617-5301811, according to the UCSC Genome Browser, March 2006). This deletion removes the entire β cluster, from the OR51B2 to OR52A1 olfactory receptor genes flanking the cluster in the 5' and 3' regions, respectively. The 5' breakpoint of this deletion is between the OR51M1 and OR51B2 genes, while the 3' breakpoint is between the OR52A1 gene and 25257 nt downstream of the OR52A5 gene. Analysis method: MLPA P102 C1 HBB kit (MRC Holland).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Brazilian |
| 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
- Ferreira RD, Mota NO, Pedroso GA, Kimura EM, Geraldo APM, Santos MNN, Costa FF, Sonati MF, First report of εγδβ -thalassemia in a Brazilian family., Int J Lab Hematol , 2018 PubMed
Created on 2018-07-02 17:44:01,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-07-02 17:44:01 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-10-29 15:59:14