IthaID: 2235
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | α-αΔ970 | HGVS Name: | NG_000006.1:g.36599_37568delinsTAG |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | 970 bp deletion |
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: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 970 bp |
| Deletion involves: | α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Poodt J, Martens HA, Walsh IB, Felix-Schollaart B, Hermans MH, A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alpha1 gene., Hemoglobin , 30(4), 471-7, 2006
Created on 2013-10-03 12:13:28,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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