IthaID: 2237
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --AW | HGVS Name: | NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion covers 8.2 kb, removing both α-globin genes. The 5' breakpoint is located at position 161279, and the 3' breakpoint is located at position 169453 (UCSC Genome Browser, March 2006). The deletion is caused by a non-homologous recombination event between an Alu and an L1-repeat sequence.
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] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 8174 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Dutch |
| 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
- Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL, A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW))., Blood Cells Mol. Dis. , 45(2), 133-5, 2010 PubMed
Created on 2013-10-03 15:27:40,
Last reviewed on 2018-01-15 17:17:16 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-03 15:27:40 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2018-01-15 17:17:16 | The IthaGenes Curation Team | Reviewed. Mutation comment and breakpoint location added. |
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IthaGenes was last updated on 2024-12-12 10:33:52