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:
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.
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: | 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To the best of our knowledge, this is unpublished data.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)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.