IthaID: 3948
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7αα (α triplication) | HGVS Name: | N/A |
Also known as:
Comments: Complex α globin gene cluster rearrangment with three α globin genes on one chromosome, comprising the wild-type α1 and α2 genes and the -α3.7 hybrid gene, which is the result of the -α3.7 deletion [IthaID: 300]. Detected by MLPA and high resolution array CGH in a heterozygous state and in trans with the --SEA deletion [IthaID: 309].
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, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | Han |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Luo, Shiqiang | 2022-07-21 | First report. |
Created on 2022-07-29 12:51:44,
Last reviewed on 2024-03-07 11:51:31 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-07-29 12:51:44 | The IthaGenes Curation Team | Created |
| 2 | 2022-07-29 12:53:05 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
| 3 | 2024-03-07 11:45:22 | The IthaGenes Curation Team | Reviewed. Comment added, Common name corrected |
| 4 | 2024-03-07 11:50:30 | The IthaGenes Curation Team | Reviewed. Functionality corrected |
| 5 | 2024-03-07 11:51:31 | The IthaGenes Curation Team | Reviewed. Variant Type |
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IthaGenes was last updated on 2024-11-20 13:24:07