IthaID: 1549
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Dutch IV | HGVS Name: | NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: As presented in the manuscript of Harteveld CL et al., 2005 (PMID: 15894596) the 5' breakpoint of the deletions is located between the positions 5242035 and 5248196 (probes 35-36) while the 3' breakpoint between the 5440521 and 5470849 (probes 17-18). According to the newest version of the MRC-Holland (SALSA® MLPA® Probemix P102-D1 HBB), the 5' breakpoint is limited between probes HBBP1 probe 18248-SP0631-L27002 and HBG1 probe 21237-L29613. The 3' breakpoint cannot be defined because the breakpoint extends beyond the MLPA probes, therefore the last probe of the kit OR51M1 probe 18247-SP0630-L27000 is deleted. The HGVS name presented is a combination of the two sources and covers approximately more than 220 kb.
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 |
In silico pathogenicity prediction
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