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
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To the best of our knowledge, this is unpublished data.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)
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