IthaID: 268
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | 3'UTR +47 C>G | HGVS Name: | HBB:c.*47C>G |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | Terminal CD +47 C>G |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TTTCTATTAAAGGTTCCTTTGTTCC [C/G] CTATTAAAGGTTCCTTTGTTCCTAT (Strand: -)
Comments: Found in a Middle Eastern (Armenian) case in compound heterozygosity with IVS I-130 G>C [IthaID:118], presented with mild β-Thalassaemia intermedia phenotype.
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: | 72065 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Other 3'UTR site (mRNA Processing) |
| Ethnic Origin: | Armenian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL, Beta-thalassaemia intermedia: is it possible consistently to predict phenotype from genotype?, Br J Haematol, 100(1), 70-8, 1998
- Thein SL, Beta-thalassaemia., Baillieres Clin Haematol, 11(1), 91-126, 1998
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-05-17 16:15:18 (Show full history)
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