IthaID: 2570
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Sardinian duplication | HGVS Name: | N/A |
Also known as:
Comments: The duplication, spanning at least 170 kb, includes the α-globin genes and the regulatory elements MCS-R1, MCS-R2(HS40), MCS-R3 and MCS-R4.
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: | Sardinian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Sollaino MC, Paglietti ME, Perseu L, Giagu N, Loi D, Galanello R, Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia., Haematologica , 94(10), 1445-8, 2009
Created on 2015-12-08 10:58:46,
Last reviewed on 2021-12-01 08:37:13 (Show full history)
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