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
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
- 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
- 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
Created on 2013-10-03 17:47:28,
Last reviewed on 2020-02-26 15:48:49 (Show full history)
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