IthaID: 2249
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)ZW | HGVS Name: | NC_000016.10:g. 90778_106773del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 15.977 kb |
| 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
- Viprakasit V, Harteveld CL, Ayyub H, Stanley JS, Giordano PC, Wood WG, Higgs DR, A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element., Blood , 107(9), 3811-2, 2006
Created on 2013-10-03 17:02:50,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.