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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
147771
Open Patient
Specimen ID
066-R1
Open Specimen
Sample ID
NNAV81
Open Sample
OncoKB Version
v4.6
Chr
chr3
Chr Start
41266136
Chr End
41266136
Ref Allele
T
Alt Allele
C
HGVS cDNA Change
c.133T>C
HGVS Protein Change
p.S45P
Existing Variant
rs121913407,COSM5663,COSM5685,COSM5719
Variant Class
Missense_Mutation
Total Reads
118
PolyPhen
possibly_damaging(0.905)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Gain-of-function