Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:aminoAcidChange |
aspartic acid to valine at position 816
|
| gptkbp:associatedWith |
gptkb:gastrointestinal_stromal_tumor
gptkb:systemic_mastocytosis gptkb:acute_myeloid_leukemia |
| gptkbp:codonChange |
GAC to GTC
|
| gptkbp:detects |
PCR
next-generation sequencing |
| gptkbp:location |
exon 17 of KIT gene
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:regulates |
gptkb:KIT
|
| gptkbp:resistantTo |
gptkb:imatinib
|
| gptkbp:sensitivity |
gptkb:avapritinib
gptkb:midostaurin |
| gptkbp:significance |
pathogenic
|
| gptkbp:bfsParent |
gptkb:systemic_mastocytosis
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
KIT D816V mutation
|