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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
BL0479
Open Patient
Specimen ID
F1894
Open Specimen
Sample ID
V1-organoid
Open Sample
OncoKB Version
Chr
chr17
Chr Start
7577099
Chr End
7577099
Ref Allele
C
Alt Allele
G
HGVS cDNA Change
c.839G>C
HGVS Protein Change
p.R280T
Existing Variant
rs121912660,CM993218,TP53_g.13819G>C,COSM10724,COSM10728,COSM11287,COSM129830,COSM1646813,COSM1649340,COSM1659144,COSM254987,COSM3522694,COSM3723939,COSM3733332,COSM562340
Variant Class
Missense_Mutation
Total Reads
73
PolyPhen
probably_damaging(0.98)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function