IthaID: 2568
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | FD duplication | HGVS Name: | NC_000016.10:g.55826_(185840_187594)dup |
Also known as:
Comments: A complete duplication of the α-globin gene cluster on the other allele spanning a 175 kb region from the telomere to the 3′HVR downstream of the α-globin genes. This duplication defect in addition to a anti-3.7 triplication, brings the expression of the α-globin genes from the normal 4 to a total of 7, explaining the severe-intermediate status of this patient.
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 |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC, Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients., Blood Cells Mol. Dis. , 40(3), 312-6, 2008
Created on 2015-12-07 11:19:17,
Last reviewed on 2021-12-01 08:36:22 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.