IthaID: 2259
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --GZ | HGVS Name: | NC_000016.10:g.(?_53322)_(879639_910965)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion length is approximately 710 kb, with the immediate 5' and 3' MLPA probe pairs located at positions 45799-45856 and 756403-756478, respectively (UCSC Genome Browser, May 2004).
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: | Portuguese, Dutch |
| 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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In such a case, please Refresh the page or retry at a later stage.
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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 PubMed
- Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ, Giordano PC, Refinement of the genetic cause of ATR-16., Hum. Genet. , 122(3), 283-92, 2007 PubMed
- Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017 PubMed
Created on 2013-10-03 18:06:32,
Last reviewed on 2018-01-15 17:27:56 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-03 18:06:32 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2017-11-08 18:54:25 | The IthaGenes Curation Team | Reviewed. Comment added. Reference added. |
| 4 | 2017-11-08 18:55:29 | The IthaGenes Curation Team | Reviewed. Origin added. |
| 5 | 2018-01-11 18:44:38 | The IthaGenes Curation Team | Reviewed. Mutation comment and other details fields corrected/edited. |
| 6 | 2018-01-11 18:46:28 | The IthaGenes Curation Team | Reviewed. Location information added. |
| 7 | 2018-01-15 17:27:56 | The IthaGenes Curation Team | Reviewed. Mutation comment edited. |
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IthaGenes was last updated on 2024-04-24 11:43:02