IthaID: 2268
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --BA | HGVS Name: | NC_000016.10:g.0_772369del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: No physical abnormalities reported but cognitive abilities fall in the low-average range.
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: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR, Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16., Hum. Mol. Genet. , 10(4), 339-52, 2001
Created on 2013-10-04 11:19:09,
Last reviewed on 2021-11-30 15:51:21 (Show full history)
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