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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
397859
Open Patient
Specimen ID
316-R
Open Specimen
Sample ID
ORIGINATOR
Open Sample
OncoKB Version
v4.0
Chr
chr3
Chr Start
178936094
Chr End
178936094
Ref Allele
C
Alt Allele
A
HGVS cDNA Change
c.1636C>A
HGVS Protein Change
p.Q546K
Existing Variant
rs121913286,COSM1566572,COSM255876,COSM6147,COSM766
Variant Class
Missense_Mutation
Total Reads
189
PolyPhen
possibly_damaging(0.843)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function