IthaID: 1510
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Black (δβ)0 | HGVS Name: | NG_000007.3:g.(60530_60730)_(72351_72551)del11822 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 60530 |
| Size: | 11.767 kb |
| Deletion involves: | δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Anagnou NP, Papayannopoulou T, Stamatoyannopoulos G, Nienhuis AW, Structurally diverse molecular deletions in the beta-globin gene cluster exhibit an identical phenotype on interaction with the beta S-gene., Blood, 65(5), 1245-51, 1985
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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