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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
292921
Open Patient
Specimen ID
168-R
Open Specimen
Sample ID
WS0
Open Sample
OncoKB Version
v3.14
Chr
chr20
Chr Start
57484421
Chr End
57484421
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.602G>A
HGVS Protein Change
p.R201H
Existing Variant
rs121913495,COSM27895,COSM308279,COSM94388,COSM99221
Variant Class
Missense_Mutation
Total Reads
248
PolyPhen
probably_damaging(0.998)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function