IthaID: 334
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)IJ | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: de novo deletion
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: | 35 kb |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Unknown |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Liebhaber SA, Griese EU, Weiss I, Cash FE, Ayyub H, Higgs DR, Horst J, Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster., Proceedings of the National Academy of Sciences of the United States of America, 87(23), 9431-5, 1990
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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