IthaID: 31
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -27 (-AA) | HGVS Name: | HBB:c.-77_-76delAA |
| Hb Name: | N/A | Protein Info: | β nts -27 - -26 deleted |
Context nucleotide sequence:
GGGCAGGAGCCAGGGCTGGGCATAA [-/AA] GTCAGGGCAGAGCCATCTATTGCTT (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | Unclear |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70518 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | TATAA box (HBB) |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Eng B, Walker L, Nakamura LM, Hoppe C, Azimi M, Lee H, Waye JS, Three new beta-globin gene promoter mutations identified through newborn screening., Hemoglobin, 31(2), 129-34, 2007
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-03-12 15:40:17 (Show full history)
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