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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
chr12
Chr Start
49448480
Chr End
49448480
Ref Allele
G
Alt Allele
-
HGVS cDNA Change
c.231del
HGVS Protein Change
p.H77Qfs*53
Existing Variant
COSM2007478,COSM2007479
Variant Class
Frame_Shift_Del
Total Reads
440
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function