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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
556579
Open Patient
Specimen ID
094-R
Open Specimen
Sample ID
UWUJJ1_RG-PV8
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7578394
Chr End
7578394
Ref Allele
T
Alt Allele
C
HGVS cDNA Change
c.536A>G
HGVS Protein Change
p.H179R
Existing Variant
rs1057519991,TP53_g.12524A>G,COSM10889,COSM129844,COSM129845,COSM129846,COSM129847,COSM1645241,COSM1731642,COSM214222,COSM214223,COSM214224,COSM214225,COSM3396280,COSM3980298,COSM43635,COSM44218,COSM44627
Variant Class
Missense_Mutation
Total Reads
50
PolyPhen
probably_damaging(0.98)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Loss-of-function