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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
144983
Open Patient
Specimen ID
106-R
Open Specimen
Sample ID
EA3QQ8TK9
Open Sample
OncoKB Version
v3.14
Chr
chr19
Chr Start
52715982
Chr End
52715982
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.547C>T
HGVS Protein Change
p.R183W
Existing Variant
rs1057519946,COSM51210,COSM51211
Variant Class
Missense_Mutation
Total Reads
234
PolyPhen
probably_damaging(0.996)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function