IthaID: 3020
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --DANE | HGVS Name: | NG_000006.1: g.8800_40007del31208 |
| 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 |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 8800 |
| Size: | 31.208 kb |
| Deletion involves: | ζ, α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Palestinian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Brieghel C, Birgens H, Frederiksen H, Hertz JM, Steenhof M, Petersen J, Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia., Hemoglobin , 39(5), 346-9, 2015
Created on 2016-08-25 16:06:41,
Last reviewed on 2016-08-26 10:50:55 (Show full history)
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