IthaID: 3386
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -76 C>A | HGVS Name: | HBB:c.-126C>A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a compound heterozygous state with a β0 mutation. The transversion C>A hits the first nucleotide in the CCAAT box of the beta globin gene.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70469 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | 5'UTR (Transcription) |
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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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Publications / Origin
- Refaldi C, Mocellin MC, Cappellini MD, Gene symbol: HBB., Hum. Genet., 121(2), 298, 2007 PubMed
Created on 2019-04-08 11:40:59,
Last reviewed on 2020-04-12 15:02:09 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-08 11:40:59 | The IthaGenes Curation Team | Created |
| 2 | 2019-11-07 10:29:13 | The IthaGenes Curation Team | Reviewed. Reference added |
| 3 | 2020-04-12 15:02:09 | The IthaGenes Curation Team | Reviewed. Location corrected. |
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IthaGenes was last updated on 2024-04-18 10:10:45