IthaID: 2496
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | TTS +48 G>A | HGVS Name: | HBB:c.*182G>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TTTTACTAAAAAGGGAATGTG [G/A] GAGGTCAGTGCATTTAAAACA (Strand: -)
Also known as: CAP +1656 G>A
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72200 |
| 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: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Vinciguerra M, Passarello C, Leto F, Cassarà F, Cannata M, Maggio A, Giambona A, Identification of three new nucleotide substitutions in the β-globin gene: laboratoristic approach and impact on genetic counselling for beta-thalassaemia., Eur. J. Haematol. , 92(5), 444-9, 2014
Created on 2014-06-05 09:23:45,
Last reviewed on 2022-10-21 09:38:43 (Show full history)
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