IthaID: 3869
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | >29.5 Kb duplication | HGVS Name: | NG_000007.3:g.(27675_41485)_(71150_72080)dup |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found in compound heterozygosity with HBB:c.93-21G>A [IthaID:113] in two regular transfusion dependent siblings. MLPA analysis shown that the >29.5 Kb duplication includes HBD, HBBP1, HBG1, HBG2 and part of HBB.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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To the best of our knowledge, this is unpublished data.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 11:18:47,
Last reviewed on 2022-02-25 17:01:17 (Show full history)
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