IthaID: 4145
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 16.8 kb deletion | HGVS Name: | NC_000016.10:g.165236_182113del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | --16.8 kb |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in a 32-year-old male presented with mild anaemia, following premarital screening tests for thalassemia.
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: | 32061 |
| Size: | 16.878 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
- Jiang F, Huang S, Liu T, Wang J, Zhou J, Zuo L, Li J, Li R, Liao C, Li D, Identification of a Novel 16.8Kb Deletion of the α-Globin Gene Cluster by Third-Generation Sequencing., Hemoglobin, 48(4), 244-249, 2024
Created on 2025-03-17 14:24:18,
Last reviewed on (Show full history)
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