IthaID: 2929
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3773658 | HGVS Name: | NG_007490.1:g.81443A>G |
Context nucleotide sequence:
TGCCCCAGCTGTACTTGCTCTGGTT [A/G] GGGGAGAAATCTCTGCAATGCTTGG (Strand: +)
Also known as:
Comments: SNP associated with risk of stroke in individuals with sickle cell disease.
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: | Stroke [HP:0001297] [OMIM:601367] |
Location
| Chromosome: | 3 |
|---|---|
| Locus: | NG_007490.1 |
| Locus Location: | 81443 |
| Size: | 1 bp |
| Located at: | TGFBR2 |
| Specific Location: | Intron 6 |
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
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 2016-06-07 09:43:25,
Last reviewed on (Show full history)
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