IthaID: 1497
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Corfu (δ)0 | HGVS Name: | NG_000007.3:g.57237_64443del7207 |
| Hb Name: | N/A | Protein Info: | δ nts -5897 - 1311 deleted |
Also known as: 7.2kb Corfu deletion
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | (δ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 57237 |
| Size: | 7.207 kb |
| Deletion involves: | δ |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Mediterranean |
| 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
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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Kulozik AE, Yarwood N, Jones RW, The Corfu delta beta zero thalassemia: a small deletion acts at a distance to selectively abolish beta globin gene expression., Blood , 71(2), 457-62, 1988 PubMed
- Galanello R, Melis MA, Podda A, Monne M, Perseu L, Loudianos G, Cao A, Pirastu M, Piga A, Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome., Blood, 75(8), 1747-9, 1990 PubMed
- Ribeiro ML, Gu LH, Buchanan-Adair I, Huisman TH, Incorrect genetic counseling of a couple with beta-thalassemia, due to incomplete testing., Am. J. Hum. Genet. , 52(4), 842-3, 1993 PubMed
- Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2020-01-15 14:03:11 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-09 09:30:04 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2018-05-08 12:38:15 | The IthaGenes Curation Team | Reviewed. Deletion size corrected |
| 5 | 2020-01-15 14:03:11 | The IthaGenes Curation Team | Reviewed. Reference added |
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