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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
119177
Open Patient
Specimen ID
322-R1
Open Specimen
Sample ID
PXWJH4KA3
Open Sample
OncoKB Version
v3.14
Chr
chr22
Chr Start
22127164
Chr End
22127164
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.964G>A
HGVS Protein Change
p.E322K
Existing Variant
rs1057519911,COSM461148
Variant Class
Missense_Mutation
Total Reads
149
PolyPhen
probably_damaging(0.995)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Gain-of-function