IthaID: 283
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 290 bp deletion | HGVS Name: | HBB:c.-176_92+25del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70419 |
| Size: | 290 bp |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Turkish, Bulgarian, Jordanian, Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Frequencies
Publications / Origin
- Diaz-Chico JC, Yang KG, Kutlar A, Reese AL, Aksoy M, Huisman TH, An approximately 300 bp deletion involving part of the 5' beta-globin gene region is observed in members of a Turkish family with beta-thalassemia., Blood, 70(2), 583-6, 1987 PubMed
- Aulehla-Scholz C, Spiegelberg R, Horst J, A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene., Human genetics, 81(3), 298-9, 1989 PubMed
- Hamid M, Dawoody Nejad L, Shariati G, Galehdari H, Saberi A, Mohammadi-Anaei M, The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran., Iran. Biomed. J. , 2016 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2016-09-06 16:18:23 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-09-06 16:18:23 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07