IthaID: 4010
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | αααα(anti-3.7) | HGVS Name: | N/A |
Also known as:
Comments: Identified by third-generation sequencing (CATSA) in Han ethnic individuals in Hainan Province. Heterozygosity for this α gene defect associated with moderate anemia in the presence of a normal β genotype, and with thalassemia intermedia in the presence of a β mutant allele.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | N/A |
| Located at: | α2, α1 |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence 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
- Huang R, Liu Y, Xu J, Lin D, Mao A, Yang L, Zhong G, Wang H, Xu R, Chen Y, Zhou Q, Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia., Arch Pathol Lab Med, 2023 PubMed
Created on 2023-01-23 15:06:36,
Last reviewed on 2024-02-23 09:35:12 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-01-23 15:06:36 | The IthaGenes Curation Team | Created |
| 2 | 2023-01-23 15:13:34 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2024-02-23 09:35:12 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |
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IthaGenes was last updated on 2024-04-24 11:43:02