IthaID: 1549
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Dutch IV | HGVS Name: | NC_000011.10:g.(5242034_5248184)_(5440568_5470849)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion covers approximately 210 kb. The 5' breakpoint is located between positions 5448616 and 5418374, and the 3' breakpoint between positions 5225968 and 5219934 (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: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
Publications / Origin
- 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
- Thein SL, The molecular basis of β-thalassemia., Cold Spring Harb Perspect Med , 3(5), a011700, 2013
Created on 2010-06-16 16:13:17,
Last reviewed on 2018-01-15 17:03:28 (Show full history)
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