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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
558632
Open Patient
Specimen ID
135-R
Open Specimen
Sample ID
AL-ETU_AL-EK4_AL-G54_AL-Q74
Open Sample
OncoKB Version
Chr
chr5
Chr Start
138163339
Chr End
138163339
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.994C>T
HGVS Protein Change
p.R332*
Existing Variant
rs371052704,COSM239475
Variant Class
Nonsense_Mutation
Total Reads
134
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function