IthaID: 3295
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 225 kb deletion | HGVS Name: | NC_000016.10:g.56407_281805del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans about 225 kb on the α-globin gene cluster (positions 46407-271806 according to the UCSC Genome Browser, March 2006). The 5' breakpoint is located within the POLR3K gene, upstream of the distal regulatory elements, and the 3' breakpoint is located within a region between the RGS11 and AXIN1 genes.
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: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Brazilian |
| 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
- Suemasu CN, Kimura EM, Oliveira DM, Bezerra MA, Araújo AS, Costa FF, Sonati MF, Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population., Braz. J. Med. Biol. Res. , 44(1), 16-22, 2011 PubMed
- Mota NO, Kimura EM, Ferreira RD, Pedroso GA, Albuquerque DM, Ribeiro DM, Santos MNN, Bittar CM, Costa FF, Sonati MF, Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients., Genet. Mol. Biol. , 40(4), 768-773, 2017 PubMed
Created on 2018-01-09 19:17:17,
Last reviewed on 2018-01-10 17:15:16 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-01-09 19:17:17 | The IthaGenes Curation Team | Created |
| 2 | 2018-01-10 17:15:16 | The IthaGenes Curation Team | Reviewed. Deletion breakpoints added. |
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IthaGenes was last updated on 2024-11-20 13:24:07