IthaID: 2260
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| 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 |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
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)
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