IthaID: 23
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -30 (T>C) | HGVS Name: | HBB:c.-80T>C |
| Hb Name: | N/A | Protein Info: | β nt -30 T>C |
Context nucleotide sequence:
GGAGGGCAGGAGCCAGGGCTGGGCA [A/C/G/T] AAAAGTCAGGGCAGAGCCATCTATT (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: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70515 |
| 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: | TATAA box (HBB) |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Cai SP, Zhang JZ, Doherty M, Kan YW, A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia., American journal of human genetics, 45(1), 112-4, 1989
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-04-08 11:49:19 (Show full history)
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