IthaID: 3867
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | >6.5 Kb deletion | HGVS Name: | NG_000007.3:g.(63032_64585)_(71150_72080)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found in an Indian female with hematology consistent with β-thalassaemia minor. MLPA analysis shown that the >6.5kbp deletion includes part of HBB and HBD.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64585 |
| Size: | 6.5 kb |
| Deletion involves: | δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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To the best of our knowledge, this is unpublished data.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 11:09:03,
Last reviewed on 2022-09-15 09:43:42 (Show full history)
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