IthaID: 3265
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | α-globin cluster triplication | HGVS Name: | NC_000016.10:g.(53322_113530)_(181203_206337)dup |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Triplication of the entire α-globin gene cluster and the regulatory region (HS-40) of the α-globin gene. Found in combination with heterozygous β-thalassaemia, resulting in a clinical presentation of thalassaemia intermedia. Identified by whole exome sequencing.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Eastern-European & Ashkenazi Jew |
| Molecular mechanism: | N/A |
| Inheritance: | N/A |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, Krasnov T, Attias D, Dgany O, Laor R, Sankaran VG, Tamary H, Whole exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia., Cold Spring Harb Mol Case Stud , 2017
Created on 2017-09-27 17:50:12,
Last reviewed on 2021-12-01 08:38:27 (Show full history)
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