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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
833975
Open Patient
Specimen ID
119-R
Open Specimen
Sample ID
EN1L20X95
Open Sample
OncoKB Version
v3.14
Chr
chr12
Chr Start
25398284
Chr End
25398284
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.35G>A
HGVS Protein Change
p.G12D
Existing Variant
rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522
Variant Class
Missense_Mutation
Total Reads
226
PolyPhen
benign(0.303)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function