IthaID: 3499
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs10513478 | HGVS Name: | NC_000003.12:g.155522876C>T |
Context nucleotide sequence:
TATAGAGTTACAGAAAGAAG [C>T] GATGAGGCATGTTTTTAAGTC (Strand: +)
Also known as:
Comments: SNP associated with painful episodes in patients from the Cooperative Study of Sickle Cell Disease (CSSCD, n=1514). The association was not replicated in two other SCD datasets, including independent patients from the CSSCD cohort.
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: | 3 |
|---|---|
| Locus: | NM_001130960.2 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | PLCH1 |
| Specific Location: | Intron 10 |
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
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
Created on 2019-11-26 12:36:35,
Last reviewed on (Show full history)
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