IthaID: 4003
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs4903539 | HGVS Name: | NC_000014.9:g.77066345T>G |
Context nucleotide sequence:
CTCTAGAGGACATGGGTCAAAAGGT [T>G] TTCATGGTAAATGGTGCCTCTGCAC (Strand: +)
Also known as:
Comments: Associated with estimated glomerular filtration rate (eGFR) in sickle cell disease cohorts (n 458 OMG-SCD, n 493 WalkPHaSST). In silico data showed that this variant may alter the binding motifs for TFs integral to kidney function, such as NFATC1 and retinoic acid receptors RARA, RARB, and RARG.
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: | Abnormal GFR [HP:0012212] |
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
- Garrett ME, Soldano KL, Erwin KN, Zhang Y, Gordeuk VR, Gladwin MT, Telen MJ, Ashley-Koch AE, Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy., Blood Adv, 2022 PubMed
Created on 2023-01-17 15:13:43,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-01-17 15:13:43 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-24 11:43:02