Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:aminoAcidChange |
Valine to Phenylalanine at position 617
|
| gptkbp:associatedWith |
gptkb:polycythemia_vera
essential thrombocythemia primary myelofibrosis myeloproliferative neoplasms |
| gptkbp:dbSNP_ID |
rs77375493
|
| gptkbp:gene |
gptkb:JAK2
|
| gptkbp:HGVS_nomenclature |
c.1849G>T
|
| https://www.w3.org/2000/01/rdf-schema#label |
JAK2 p.Val617Phe
|
| gptkbp:locatedOnChromosome |
9
|
| gptkbp:molecular_consequence |
gain of function
|
| gptkbp:mutationAssociatedWith |
missense
|
| gptkbp:nucleotide_change |
G to T at position 1849
|
| gptkbp:pathogenicTo |
pathogenic
|
| gptkbp:protein_change |
Val617Phe
|
| gptkbp:bfsParent |
gptkb:JAK2_V617F_mutation
|
| gptkbp:bfsLayer |
7
|