IthaID: 1533
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 49.3 kb Gγ(Aγδβ)0 Asian del | HGVS Name: | NC_000011.10:g.5201244_5250542del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Detected in seven unrelated Canadian families of Asian Indian ancestry. The adult carriers had mild microcytosis and hypochromia with markedly elevated levels of Hb F. Homozygotes had mild microcytosis without significant anaemia.
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: | Asian, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
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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Publications / Origin
- Waye JS, Walker L, Kyriakopoulou LG, Potter MA, Eng B, Characterisation of a novel 49.3 kb Ggamma(Agamma delta beta)(0) -thalassaemia deletion in seven families of Asian descent., British journal of haematology, 138(1), 125-6, 2007 PubMed
- Mayuranathan T, Rayabaram J, Das R, Arora N, Edison ES, Chandy M, Srivastava A, Velayudhan SR, Identification of rare and novel deletions that cause (δβ)(0) -thalassaemia and hereditary persistence of foetal haemoglobin in Indian population., Eur. J. Haematol. , 92(6), 514-20, 2014 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-09-26 16:24:32 (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 | 2019-07-29 10:47:40 | The IthaGenes Curation Team | Reviewed. Common Name changed, Comment and Reference added. |
| 4 | 2019-09-26 16:24:32 | The IthaGenes Curation Team | Reviewed. Reference and Origin added. |
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IthaGenes was last updated on 2024-11-20 13:24:07