IthaID: 1551
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Dutch VI | HGVS Name: | NC_000011.10:g.(?_5227218)_(5373082_5382848)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion length is reported to be 160 kb or 175 kb. The 5' breakpoint is located between positions 5360654 and 5350888, whereas the 3' breakpoint is mapped to position 5204970 (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
Publications / Origin
- 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 18:09:50 (Show full history)
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