IthaID: 3069
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
---|---|---|---|
Common Name: | -77 G>C | HGVS Name: | HBB:c.-127G>C |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: This mutation is located just next to the CAAT box transcription factor binding site. Associated with a mild phenotype of beta-thalassaemia.
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: | 70468 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Promoter |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Promoter (Transcription) |
Ethnic Origin: | Turkish |
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
- Bilgen T, Canatan D, Delibas S, Keser I, A Novel Mutation in the Promoter Region of the β-Globin Gene: HBB: c.-127G > C., Hemoglobin , 40(4), 280-2, 2016 PubMed
Created on 2016-09-06 15:43:15,
Last reviewed on 2018-02-27 18:12:01 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2016-09-06 15:43:15 | The IthaGenes Curation Team | Created |
2 | 2016-09-06 15:52:56 | The IthaGenes Curation Team | Reviewed. Location updated. |
3 | 2018-02-27 18:12:01 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
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IthaGenes was last updated on 2024-10-30 08:58:42