IthaID: 3545
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs12536620 | HGVS Name: | NG_050579.1:g.44506A>G |
Context nucleotide sequence:
CCAGTATGATGTTCAAAAGCTGACTC [A>G] TTGCTCTTCAGAAATTACAGAAATGT (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
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
Created on 2019-12-13 12:22:08,
Last reviewed on (Show full history)
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