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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
466636
Open Patient
Specimen ID
057-R
Open Specimen
Sample ID
IJ4M100KC8
Open Sample
OncoKB Version
v3.14
Chr
chr18
Chr Start
48591919
Chr End
48591919
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.1082G>A
HGVS Protein Change
p.R361H
Existing Variant
rs377767347,CM004254,CM100519,COSM14122,COSM4072505
Variant Class
Missense_Mutation
Total Reads
80
PolyPhen
probably_damaging(0.999)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Loss-of-function