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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2014-05-29 16:59:45,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-05-29 16:59:45 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07