IthaID: 2564
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | 3'UTR +1592 (A>G) | HGVS Name: | HBB:c.*118A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in combination with CD 39 (C>T), diagnosed with β-thal intermedia. Carriers do not have hematological parameters associated with β-thal.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β++ (silent) |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72136 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
Publications / Origin
- Herrera MA, De La Fuente-Gonzalo F, González FA, Nieto JM, Dominguez AB, Villegas A, Ropero P, Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain., Hemoglobin , 39(1), 30-5, 2015
Created on 2015-12-03 11:34:42,
Last reviewed on 2017-06-28 12:50:16 (Show full history)
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