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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
625472
Open Patient
Specimen ID
104-R
Open Specimen
Sample ID
H70HC4
Open Sample
OncoKB Version
v3.14
Chr
chr3
Chr Start
178927980
Chr End
178927980
Ref Allele
T
Alt Allele
C
HGVS cDNA Change
c.1258T>C
HGVS Protein Change
p.C420R
Existing Variant
rs121913272,COSM267862,COSM757
Variant Class
Missense_Mutation
Total Reads
134
PolyPhen
possibly_damaging(0.908)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function