IthaID: 2260
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | Dutch II | HGVS Name: | NC_000016.10:g.(?_55799)_(284538_298092)del |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 300 kb on the α-globin gene cluster. The 5' breakpoint is located within the C16orf8/RHBDF1 gene, upstream of the distal regulatory elements, and the 3' breakpoint is located within a 136 kb region between the PDIP and AXIN1 genes.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Dutch |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | Yes |
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.
Publications / Origin
- Harteveld KL, Losekoot M, Heister AJ, van der Wielen M, Giordano PC, Bernini LF, alpha-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations., Hum. Genet. , 100(3), 465-71, 1997
- 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 2013-10-03 18:10:11,
Last reviewed on 2018-01-09 18:29:08 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2013-10-03 18:10:11 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2018-01-09 18:14:27 | The IthaGenes Curation Team | Reviewed. Mutation comment added. Location details added. |
4 | 2018-01-09 18:19:16 | The IthaGenes Curation Team | Reviewed. Mutation comment edited. |
5 | 2018-01-09 18:29:08 | The IthaGenes Curation Team | Reviewed. |
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