IthaID: 4021
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2209331 | HGVS Name: | NC_000006.12:g.136121468G>A |
Context nucleotide sequence:
TCTTGGAAAAGACCAGAAAGCTAAAAAT [G>A] TATTTTTAGAAAGTCCTCCTTGGAAGACC (Strand: +)
Also known as:
Comments: AG was associated with an average increase of 3% and GG with an average increase of 11% in HbF following treatment with hydroxyurea (OR 1.6 and 7.5, p=0.05 and 0.000) [http://doi.org/10.1182/blood.V104.11.108.108].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F response to hydroxyurea |
Location
| Chromosome: | 6 |
|---|---|
| Locus: | NG_011994.1 |
| Locus Location: | 274773 |
| Size: | 1 bp |
| Located at: | PDE7B |
| Specific Location: | Intron 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2023-04-03 09:58:20,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-04-03 09:58:20 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-24 11:43:02