IthaID: 2565
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -25 G>T | HGVS Name: | HBB:c.-75G>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCAGGAGCCAGGGCTGGGCATAAAA [G>T] TCAGGGCAGAGCCATCTATTGCTTA (Strand: -)
Also known as:
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: | 70520 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Li Z, Li L, Yao Y, Li N, Li Y, Zhang Z, Yan F, Qiu H, Wu C, Zhang Z, A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia., Hemoglobin , 39(2), 115-20, 2015
Created on 2015-12-03 11:47:18,
Last reviewed on (Show full history)
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