sequenceDifferenceConsequence
P68444
predicate
Indicates that a difference or variation in a sequence leads to, or results in, a particular consequence or outcome.
Observed surface forms (2)
- variationConsequence ×4
- mutationConsequence ×2
Sample triples (8)
| Subject | Object |
|---|---|
| SMN2 | disrupted exonic splicing enhancer ⓘ |
| SMN2 | increased exon 7 skipping ⓘ |
| Bruton tyrosine kinase | loss-of-function mutations cause B cell maturation arrest via predicate surface "mutationConsequence" ⓘ |
| Bruton tyrosine kinase | loss-of-function mutations cause hypogammaglobulinemia via predicate surface "mutationConsequence" ⓘ |
| CYP2C19 | poor metabolizer phenotype via predicate surface "variationConsequence" ⓘ |
| CYP2C19 | intermediate metabolizer phenotype via predicate surface "variationConsequence" ⓘ |
| CYP2C19 | extensive metabolizer phenotype via predicate surface "variationConsequence" ⓘ |
| CYP2C19 | ultrarapid metabolizer phenotype via predicate surface "variationConsequence" ⓘ |