IthaID: 1548
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Dutch III | HGVS Name: | NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion covers 112 kb, with the immediate 5' and 3' MLPA probe pairs located at positions 5342559-5342603 and 5225968-5226029, respectively (UCSC Genome Browser, May 2004).
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: | Dutch |
| 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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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Harteveld CL, Osborne CS, Peters M, van der Werf S, Plug R, Fraser P, Giordano PC, Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family., British journal of haematology, 122(5), 855-8, 2003 PubMed
- Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification., Journal of medical genetics, 42(12), 922-31, 2005 PubMed
- Thein SL, The molecular basis of β-thalassemia., Cold Spring Harb Perspect Med , 3(5), a011700, 2013 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2018-01-15 17:25:04 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2018-01-11 18:24:03 | The IthaGenes Curation Team | Reviewed. Mutation comment edited. Referenced added. |
| 4 | 2018-01-15 16:52:44 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2018-01-15 17:25:04 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07