IthaID: 2679
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs17728960 | HGVS Name: | NC_000020.11:g.51513177T>C |
Context nucleotide sequence:
AAGTTTTTAAATCATATATTGGATC [C/T] TCAAAGTTACAGGCACTTGGGCCAC (Strand: +)
Also known as:
Comments: SNP associated with acute chest syndrome in the Cooperative Study of Sickle Cell Disease (CSSCD) (n=1901). Follow-up validation studies replicated the association in individuals with sickle cell disease (SCD) acquired from the Georgia Health Sciences University (GHSU) Sickle Cell Center (n=318) but not in an independent SCD cohort acquired from the Duke University (n=449).
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: | Acute chest syndrome |
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
- Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
Created on 2016-05-11 17:16:32,
Last reviewed on 2016-05-11 17:23:08 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-11 17:16:32 | The IthaGenes Curation Team | Created |
| 2 | 2016-05-11 17:23:08 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-03 11:48:06