IthaID: 2228
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | 3'UTR +107 A>G | HGVS Name: | HBA2:c.*107A>G |
Context nucleotide sequence:
GTCTTTGAATAAAGTCTGAGTGGGC [A/G] GCAGCCTGTGTGTGCCTGGGTTCTC (Strand: +)
Also known as:
Comments: A very common polymorphism not associated with any thalassemia feature.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34570 |
| Size: | 1 bp |
| Located at: | α2 |
| 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
- De Angioletti M, Lacerra G, Boletinio E, Di Noce F, Musollino G, Carestia C, Beta- and alpha-globin genotypes in Albanian patients affected by beta-globin gene disorders., Haematologica , 87(9), 1002-3, 2002
Created on 2013-10-02 17:30:26,
Last reviewed on 2022-05-16 10:06:11 (Show full history)
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