IthaID: 3868
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | >35.3 Kb deletion | HGVS Name: | NG_000007.3:g.(21655_27675)_(63032_64586)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in compound heterozygosity with HBB:c.315+1G>A [IthaID:200] in a regular transfusion dependent patient. Patient’s father also has the deletion. He presented with hematological finding consistent with heterozygous β-thalassaemia. MLPA analysis shown that the >35.3 Kb deletion includes HBBP1, HBG1, HBG2, HBE and part of HBD.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Traeger Synodinos, Jan | 2021-10-01 | First report. |
| 2 | Vrettou, Christina | 2021-10-01 | First report. |
Created on 2021-10-05 11:14:36,
Last reviewed on 2022-09-15 09:48:43 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-10-05 11:14:36 | The IthaGenes Curation Team | Created |
| 2 | 2021-11-25 13:07:41 | The IthaGenes Curation Team | Reviewed. Thalassaemia type corrected. |
| 3 | 2022-07-12 11:16:50 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
| 4 | 2022-09-15 09:48:43 | The IthaGenes Curation Team | Reviewed. Comment corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07