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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
172845
Open Patient
Specimen ID
142-T
Open Specimen
Sample ID
M80J08J61
Open Sample
OncoKB Version
v3.14
Chr
chr3
Chr Start
178936091
Chr End
178936091
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.1633G>A
HGVS Protein Change
p.E545K
Existing Variant
rs104886003,CM126692,COSM125370,COSM27133,COSM295672,COSM763
Variant Class
Missense_Mutation
Total Reads
134
PolyPhen
probably_damaging(0.909)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function