IthaID: 3591
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2963155 | HGVS Name: | NG_009062.1:g.64074T>C |
Context nucleotide sequence:
TTAGAGAGAAGGAACGTGGACATA [T>C] AGAGGTAGCTCTAGATGGAGAAGGG (Strand: -)
Also known as:
Comments: The GG and GA genotypes associated with increased health care utilization for acute pain in an African-American cohort with sickle cell disease. No association with chronic pain as deduced by Composite Pain Index (CPI). Though there is a strong linkage disequilibrium among the three NR3C1 variants (rs33389, rs2963155 and rs9324918), they do not form a haploblock.
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: | Pain [HP:0012531] |
Location
| Chromosome: | 5 |
|---|---|
| Locus: | NG_009062.1 |
| Locus Location: | 64074 |
| Size: | 1 bp |
| Located at: | NR3C1 |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American |
| 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
- Jhun EH, Sadhu N, Yao Y, He Y, Molokie RE, Wilkie DJ, Wang ZJ, Glucocorticoid receptor single nucleotide polymorphisms are associated with acute crisis pain in sickle cell disease., Pharmacogenomics, 19(13), 1003-1011, 2018 PubMed
Created on 2020-05-19 12:27:55,
Last reviewed on 2020-05-19 12:31:36 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-05-19 12:27:55 | The IthaGenes Curation Team | Created |
| 2 | 2020-05-19 12:31:36 | The IthaGenes Curation Team | Reviewed. Paper added. |
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IthaGenes was last updated on 2024-04-12 12:35:12