IthaID: 17
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -50 G>A | HGVS Name: | HBB:c.-100G>A |
| Hb Name: | N/A | Protein Info: | β nt -50 G>A |
Context nucleotide sequence:
CAATCTACTCCCAGGAGCAGGGAGG [A/G] CAGGAGCCAGGGCTGGGCATAAAAG (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: | 70495 |
| 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 DZ, Liao C, Xie XM, Zhou JY, A novel mutation of -50 (G-->A) in the direct repeat element of the beta-globin gene identified in a patient with severe beta-thalassemia., Annals of hematology, 88(11), 1149-50, 2009
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-01-16 12:56:49 (Show full history)
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