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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
625472
Open Patient
Specimen ID
104-R
Open Specimen
Sample ID
H70HC4
Open Sample
OncoKB Version
v3.14
Chr
chr12
Chr Start
49418395
Chr End
49418395
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.16018C>T
HGVS Protein Change
p.R5340*
Existing Variant
CM1111276,COSM302646,COSM302647
Variant Class
Nonsense_Mutation
Total Reads
92
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function