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
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
Created on 2023-01-23 15:06:36,
Last reviewed on 2024-02-23 09:35:12 (Show full history)
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