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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
chr17
Chr Start
7578431
Chr End
7578431
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.499C>T
HGVS Protein Change
p.Q167*
Existing Variant
CM942118,TP53_g.12487C>T,COSM11333,COSM121081,COSM121082,COSM121083,COSM121084,COSM2744872,COSM3937613,COSM44336,COSM44800,COSM46066
Variant Class
Nonsense_Mutation
Total Reads
172
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function