IthaID: 1520
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | German (Aγδβ)0 | HGVS Name: | NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | Gγ(Aγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | German |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Anagnou NP, Papayannopoulou T, Nienhuis AW, Stamatoyannopoulos G, Molecular characterization of a novel form of (A gamma delta beta)zero-thalassemia deletion with a 3' breakpoint close to those of HPFH-3 and HPFH-4: insights for a common regulatory mechanism., Nucleic acids research, 16(13), 6057-66, 1988
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-03-16 16:43:26 (Show full history)
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