IthaID: 2907
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs559046 | HGVS Name: | NG_029954.1:g.68394A>G |
Context nucleotide sequence:
AAGCTGCAGGGGAGGAAAAAAGTCC [C/T] TTCCTCTTTGTCCACGACTGACTCT (Strand: -)
Also known as:
Comments: SNP associated with pulmonary hypertension in individuals with sickle cell disease (59 cases; 107 controls).
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] |
Location
| Chromosome: | 18 |
|---|---|
| Locus: | NG_029954.1 |
| Locus Location: | 68394 |
| Size: | 1 bp |
| Located at: | NEDD4L |
| Specific Location: | Intron 1 |
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 2016-05-23 15:04:12,
Last reviewed on (Show full history)
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