IthaID: 2241
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --ED | HGVS Name: | NC_000016.10:g.(110582_113386)_(187266_188773)del |
| 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] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Villegas A, Ropero P, Anguita E, Hernández A, Polo M, Ataúlfo González F, [Molecular characterization of two new mutations of α° thalassemia in two Spanish families (mutation --(ED) and --(GP))]., Med Clin (Barc) , 136(15), 674-7, 2011
Created on 2013-10-03 15:55:12,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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