IthaID: 3948
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7αα (α triplication) | HGVS Name: | N/A |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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].
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
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To the best of our knowledge, this is unpublished data.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)
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