
IthaID: 1531
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | Canadian (Aγδβ)0 | HGVS Name: | NC_000011.10:g.5196589_5251715delinsTA |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
No available 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: | Canadian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Voruganti I, Eng B, Waye JS, Molecular characterization of a novel 55.1 kb (G)gamma((A)gammadeltabeta)(0)-thalassemia deletion in two Canadian families., Hemoglobin, 33(6), 422-7, 2009
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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