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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
193832
Open Patient
Specimen ID
021-R
Open Specimen
Sample ID
AL-JGK
Open Sample
OncoKB Version
Chr
chr4
Chr Start
55958788
Chr End
55958788
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.3065G>A
HGVS Protein Change
p.R1022Q
Existing Variant
rs780764266,COSM1430208,COSM734154
Variant Class
Missense_Mutation
Total Reads
325
PolyPhen
probably_damaging(0.998)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Gain-of-function