IthaID: 4164
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 83 kb deletion | HGVS Name: | NC_000011.10:g.5159177_5242755del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in a proband, presenting with elevated HbF levels. The deletion spans more than 83 kb within the β-globin gene locus, encompassing the entire HBD, HBB, OR51V1 and OR52Z1P genes, as well as part of the HBBP1 gene. The deletion was detected using Single Molecule Real-Time (SMRT) sequencing technology.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
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To the best of our knowledge, this is unpublished data.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 | Wei, Fengxiang | 2025-11-11 | First report. |
Created on 2025-11-12 09:27:26,
Last reviewed on (Show full history)
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