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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
292921
Open Patient
Specimen ID
168-R
Open Specimen
Sample ID
V1-organoid
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7577138
Chr End
7577138
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.800G>A
HGVS Protein Change
p.R267Q
Existing Variant
rs587780075,CM921040,COSM11392,COSM1290766,COSM131044,COSM13165,COSM1646804,COSM1649336,COSM327262,COSM3403257,COSM3691863,COSM3691864,COSM4271769,COSM43923,COSM707909,COSM87858
Variant Class
Missense_Mutation
Total Reads
60
PolyPhen
probably_damaging(0.987)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function