IthaID: 4192
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --FIL-3 | HGVS Name: | NC_000016.10:g.158789_185431del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | --26.6 kb deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in two unrelated carriers exhibiting a typical α⁰-thalassemia trait phenotype, characterized by marked microcytosis and hypochromia. The deletion encompasses the entire HBM, HBA2, HBA1, and HBQ1 genes. The proximal breakpoint is located downstream of HBZ, leaving the gene intact, whereas the distal breakpoint lies downstream of LUC7L, without disrupting its annotated gene sequence.
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: | 19652 |
| Size: | 26.642 kb |
| Deletion involves: | α2, α1, HBM |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Filipino |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Waye, John S. | 2026-08-11 | First report. |
Created on 2026-10-14 13:53:38,
Last reviewed on (Show full history)
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