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OncoKB Gene Panel: Listing of All Nonsynonymous Variants in Genes of Interest; Variant May or May Not Play a Role in Cancer Predisposition
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Patient ID
128783
Open Patient
Specimen ID
104-T
Open Specimen
Sample ID
VJ7WA3YF0
Open Sample
OncoKB Version
v3.14
Chr
chr3
Chr Start
178936082
Chr End
178936082
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.1624G>A
HGVS Protein Change
p.E542K
Existing Variant
rs121913273,COSM125369,COSM17442,COSM326157,COSM760
Variant Class
Missense_Mutation
Total Reads
175
PolyPhen
probably_damaging(0.912)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function