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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
997537
Open Patient
Specimen ID
175-T
Open Specimen
Sample ID
V1-organoid
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7577121
Chr End
7577121
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.817C>T
HGVS Protein Change
p.R273C
Existing Variant
rs121913343,CM010473,CM010471,CM951233,TP53_g.13797C>T,COSM10659,COSM1645518,COSM3355991,COSM3719990,COSM3719991,COSM3719992,COSM3958801,COSM3958802,COSM417971,COSM43843,COSM43909,COSM44701,COSM99933
Variant Class
Missense_Mutation
Total Reads
177
PolyPhen
probably_damaging(0.999)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function