IthaID: 3196
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1478605 | HGVS Name: | NC_000015.10:g.39581083G>A |
Context nucleotide sequence:
AACTCGCAGGCCAGCTCGGGCGCAG [C/T] GGCTGGCAAGGCGGAGGAGCCGCGC (Strand: -)
Also known as:
Comments: SNP associated with variation in pulmonary artery systolic pressure in individuals with sickle cell disease from the multicenter walk-PHaSST trial (Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy).
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: | Pulmonary arterial hypertension [HP:0002092] [OMIM:265400] |
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
- Jacob SA, Novelli EM, Isenberg JS, Garrett ME, Chu Y, Soldano K, Ataga KI, Telen MJ, Ashley-Koch A, Gladwin MT, Zhang Y, Kato GJ, Thrombospondin-1 gene polymorphism is associated with estimated pulmonary artery pressure in patients with sickle cell anemia., Am. J. Hematol. , 92(3), E31-E34, 2017 PubMed
Created on 2017-02-21 14:44:50,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-02-21 14:44:50 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07