mutationType
P68674
predicate
Indicates the specific kind or category of genetic alteration that has occurred in an entity.
Observed surface forms (5)
- mutationTypeAssociated ×5
- mutationTypeCausingDisease ×2
- causativeMutationType ×1
- hasMutationType ×1
- mutationTypeInDisease ×1
Sample triples (21)
| Subject | Object |
|---|---|
| 5q13 (SMN1) | homozygous deletion via predicate surface "mutationTypeCausingDisease" ⓘ |
| 5q13 (SMN1) | loss-of-function mutation via predicate surface "mutationTypeCausingDisease" ⓘ |
| Angel Salvadore | secondary mutation ⓘ |
| Bitores Mendez | Las Plagas mutation NERFINISHED ⓘ |
| C9orf72 | hexanucleotide repeat expansion ⓘ |
|
chromosome 9 open reading frame 72
surface form:
C9orf72
|
hexanucleotide repeat expansion via predicate surface "mutationTypeInDisease" ⓘ |
|
collie eye anomaly
surface form:
Collie eye anomaly
|
deletion via predicate surface "causativeMutationType" ⓘ |
| Fié Gris | color mutation ⓘ |
| HGNC:28350 | repeat expansion ⓘ |
|
HTT gene
surface form:
HTT
|
CAG trinucleotide repeat expansion via predicate surface "hasMutationType" ⓘ |
| Jared Nomak | vampire-virus hybrid mutation ⓘ |
| Lambent | Imulsion-induced mutation ⓘ |
| Nav1.1 sodium channel | frameshift mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Nav1.1 sodium channel | loss-of-function mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Nav1.1 sodium channel | missense mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Nav1.1 sodium channel | nonsense mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Nav1.1 sodium channel | splice-site mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Splinter | mutant ⓘ |
| TARDBP | frameshift mutation ⓘ |
| TARDBP | missense mutation ⓘ |
| TARDBP | nonsense mutation ⓘ |