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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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).
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
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
- 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
- Thein SL, The molecular basis of β-thalassemia., Cold Spring Harb Perspect Med , 3(5), a011700, 2013
Created on 2010-06-16 16:13:17,
Last reviewed on 2018-01-15 17:25:04 (Show full history)
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