IthaID: 3274
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --CBR | HGVS Name: | NC_000016.10:g.(?_53322)_(177893_179815)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion removes the sub-telomeric region of the short arm of chromosome 16 and extends to a region of 1.8 kb downstream of the HBA1 gene. The entire α-globin gene culster is removed, including the SNRNP25, RHBDF1, MPG and NPRL3 genes.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Portuguese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017
Created on 2017-11-08 20:27:01,
Last reviewed on 2017-11-08 20:32:36 (Show full history)
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