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
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
- 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
- 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
- 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2020-01-15 14:03:11 (Show full history)
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