IthaID: 3255
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --MEX3 | HGVS Name: | NC_000016.10:g.151479_182582del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Mexican |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Rentería-López VM, Perea-Díaz FJ, Rizo-delaTorre LC, Sánchez-López JY, Ibarra-Cortés B, A Novel 31.1 kb α-Thalassemia Deletion (- -(MEX3)) Found in a Mexican Family., Hemoglobin , 2017 PubMed
Created on 2017-09-06 19:13:58,
Last reviewed on 2017-09-06 19:15:27 (Show full history)
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