IthaID: 1525
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Belgian (Aγδβ)0 | HGVS Name: | NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion covers 50 kb.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | Gγ(Aγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Belgian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Losekoot M, Fodde R, Gerritsen EJ, van de Kuit I, Schreuder A, Giordano PC, Vossen JM, Bernini LF, Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant., Blood, 77(4), 861-7, 1991
- 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 2022-10-13 15:05:10 (Show full history)
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