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) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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
Created on 2016-09-06 15:43:15,
Last reviewed on 2018-02-27 18:12:01 (Show full history)
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