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 |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | N/A |
Size: | 48.03 kb |
Deletion involves: | HS40 |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Scottish |
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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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 PubMed
Created on 2013-10-03 16:58:07,
Last reviewed on 2022-01-24 20:43:43 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2013-10-03 16:58:07 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2022-01-24 20:43:43 | The IthaGenes Curation Team | Reviewed. HGVS name and comment added. |
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IthaGenes was last updated on 2024-09-28 12:00:32