IthaID: 2252
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --BR | HGVS Name: | NC_000016.10:g.11555_229482del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
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: | South European, Spanish |
| 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.
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Villegas A, Calero F, Vickers MA, Ayyub H, Higgs DR, Alpha thalassaemia in two Spanish families., Eur. J. Haematol. , 44(2), 109-15, 1990 PubMed
- Harris PC, Barton NJ, Higgs DR, Reeders ST, Wilkie AO, A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus., Genomics , 7(2), 195-206, 1990 PubMed
- Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR, Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects., Eur. J. Hum. Genet. , 9(3), 217-25, 2001 PubMed
Created on 2013-10-03 17:47:28,
Last reviewed on 2020-02-26 15:48:49 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-03 17:47:28 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-02-26 15:48:49 | The IthaGenes Curation Team | Reviewed. Reference and Origin added |
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IthaGenes was last updated on 2024-11-20 13:24:07