IthaID: 3142
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α6.3 | HGVS Name: | NG_000006.1:g.31022_37366del6344 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans about 6.3 kb on the α-globin gene cluster and involves deletion of the HBA2 gene, causing deficient α-globin production. The breakpoints were at 2,754 bp upstream of the α1-globin gene translation initiation codon and 2,903 bp downstream of the α1-globin gene translation termination codon.
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: | 6.344 kb |
| Deletion involves: | α2 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| 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
- Wang XY, Lin MX, Lin M, A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α(+)-Thalassemia in two Chinese Patients., Hemoglobin , 40(5), 365-368, 2016 PubMed
Created on 2017-01-17 11:28:36,
Last reviewed on 2017-01-17 11:33:25 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-01-17 11:28:36 | The IthaGenes Curation Team | Created |
| 2 | 2017-01-17 11:29:37 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2017-01-17 11:32:29 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2017-01-17 11:33:25 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07