IthaID: 2430
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 203 bp deletion | HGVS Name: | NG_000006.1:g.34305_34507del203 |
| Hb Name: | N/A | Protein Info: | α2 nts 567-769 deleted |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34305 |
| Size: | 203 bp |
| Deletion involves: | α2 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Libanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lambert A, Wong AY, Kominami Y, Smith VC, Reddy S, Wadsworth LD, Au NH, MacGillivray RT, Microdeletion of exon 3 in the HBA2 gene associated with mild α-thalassemia trait., Hemoglobin , 37(2), 192-6, 2013
Created on 2014-05-29 16:59:45,
Last reviewed on (Show full history)
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