IthaID: 1547
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Dutch II | HGVS Name: | NC_000011.10:g.(?_4999945)_(5409809_5430440)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion length is estimated to be larger than 400 kb. The 5' breakpoint is located between positions 5408181 and 5387616, while the 3' breakpoint region is undefined (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
- Abels J, Michiels JJ, Giordano PC, Bernini LF, Baysal E, Smetanina NS, Kazanetz EG, Leonova JY, Huisman TH, A de novo deletion causing epsilon gamma delta beta-thalassemia in a Dutch patient., Acta haematologica, 96(2), 108-9, 1996
- 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2018-01-15 17:26:20 (Show full history)
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