IthaID: 2248
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)Sco | HGVS Name: | NC_000016.10:g.(93618_93635)_(141631_141648)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: De novo crossover on the paternal chromosome.
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] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 48.03 kb |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Scottish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Viprakasit V, Kidd AM, Ayyub H, Horsley S, Hughes J, Higgs DR, De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia., Br. J. Haematol. , 120(5), 867-75, 2003
Created on 2013-10-03 16:58:07,
Last reviewed on 2022-01-24 20:43:43 (Show full history)
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