IthaID: 3207
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs76056952 | HGVS Name: | NG_033236.1:g.77856G>C |
Context nucleotide sequence:
GGGAGCTGACGATTCTTGACACATC [C/G] TGGTGGGGAAAGGGGCCATAAGCCA (Strand: +)
Also known as:
Comments: SNP associated with protection against elevated glomerular filtration rate in SCA pediatric patients enrolled from the HUSTLE (Hydroxyurea Study of Long-term Effects) and TWiTCH (TCD With Transfusions Changing to Hydroxyurea) clinical trials.
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] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_033236.1 |
| Locus Location: | 77856 |
| Size: | 1 bp |
| Located at: | PKD1L2 |
| Specific Location: | Intron 29 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Consensus splice site (mRNA Processing) |
| 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
- Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016 PubMed
Created on 2017-03-20 16:27:46,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-03-20 16:27:46 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07