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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
114551
Open Patient
Specimen ID
080-T
Open Specimen
Sample ID
M667M229C04
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7578406
Chr End
7578406
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.524G>A
HGVS Protein Change
p.R175H
Existing Variant
CM062017,CM951224,TP53_g.12512G>A,rs28934578,COSM10648,COSM10718,COSM1640851,COSM1679508,COSM1679509,COSM1679510,COSM1679511,COSM1679512,COSM3355994,COSM4271918,COSM45416,COSM99022,COSM99023,COSM99024,COSM99914
Variant Class
Missense_Mutation
Total Reads
116
PolyPhen
benign(0.319)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Loss-of-function