IthaID: 1541
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Croatian (εγδβ)0 | HGVS Name: | NC_000011.10:g.(5151491_5158092)_(5285862_5295096)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 148 kb. The 5' breakpoint is located between positions 5272871 and 5263688, while the 3' breakpoint is located between positions 5135864 and 5129333 (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: | Croatian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Diaz-Chico JC, Huang HJ, Juricić D, Efremov GD, Wadsworth LD, Huisman TH, Two new large deletions resulting in epsilon gamma delta beta-thalassemia., Acta haematologica, 80(2), 79-84, 1988 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 18:20:38 (Show full history)
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