IthaID: 1525
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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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 |
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Hemoglobinopathy Subgroup: | δβ-thalassaemia |
Allele Phenotype: | Gγ(Aγδβ)0 |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Belgian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-10-13 15:05:10 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
3 | 2018-01-15 18:25:00 | The IthaGenes Curation Team | Reviewed. Mutation comment added. Reference added. |
4 | 2022-10-13 15:05:10 | The IthaGenes Curation Team | Reviewed. HGVs name corrected. |
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IthaGenes was last updated on 2024-12-12 10:33:52