IthaID: 4166
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 28.1 kb deletion | HGVS Name: | NC_000016.10:g.167676_195747del |
| 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 reduced MCV and MCH levels. The deletion spans 28 kb within the α-globin gene locus, encompassing the entire HBAP1, HBA2, HBA1, HBQ1 and LUC7L genes. It was detected using Single Molecule Real-Time (SMRT) sequencing technology.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 28539 |
| Size: | 28.071 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| 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To the best of our knowledge, this is unpublished data.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 | Wei, Fengxiang | 2025-11-11 | First report. |
Created on 2025-11-12 10:57:47,
Last reviewed on (Show full history)
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