IthaID: 2562
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)HS40del | HGVS Name: | NC_000016.10:g.(?_53625)_(113702_143677)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: deletion of HS-40 region, chr16:g.(?_103625)_(163701_193676)del [GRCh37(hg19)]
Comments: Deletion of alpha globin regulatory region (HS40).
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 |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2015-12-02 11:27:53,
Last reviewed on 2021-12-14 14:08:54 (Show full history)
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