IthaID: 3481
Names and Sequences
Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
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Common Name: | rs540006 | HGVS Name: | NG_029975.1:g.2726A>G |
Context nucleotide sequence:
ATTAATGATTTTCAAGCATTAGA [A>G] TGTACTTTGATTTGGATACTCTTT (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.
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] |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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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 2019-10-17 09:57:00,
Last reviewed on 2019-11-18 17:06:24 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2019-10-17 09:57:00 | The IthaGenes Curation Team | Created |
2 | 2019-11-18 17:06:24 | The IthaGenes Curation Team | Reviewed. Allele and Context sequence added. |
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IthaGenes was last updated on 2024-10-30 08:58:42