IthaID: 3544
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1526083 | HGVS Name: | NG_050579.1:g.9354A>G |
Context nucleotide sequence:
ATTTGCATATGCACAGGCACTCCATTC [A>G] GTTGTCATCAAATGCCCTTTGTTCAGA (Strand: +)
Also known as:
Comments: SNP is significantly associated with development of ACS in patients (aged <5 years) with sickle cell anaemia. Source: Blood (2007) 110 (11): 2247; doi.org/10.1182/blood.V110.11.2247.2247
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: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | No |
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
- Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010 PubMed
Created on 2019-12-13 12:07:13,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-12-13 12:07:13 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07