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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
415267
Open Patient
Specimen ID
285-R
Open Specimen
Sample ID
J2-PDC
Open Sample
OncoKB Version
v3.14
Chr
chr12
Chr Start
49434618
Chr End
49434618
Ref Allele
G
Alt Allele
C
HGVS cDNA Change
c.6935C>G
HGVS Protein Change
p.S2312*
Existing Variant
COSM4426863,COSM4426864,COSM5349809,COSM5349810
Variant Class
Nonsense_Mutation
Total Reads
219
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function