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Sample (PDX or In Vitro Culture)
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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
K00052
Open Patient
Specimen ID
001-T
Open Specimen
Sample ID
CT1AP3
Open Sample
OncoKB Version
Chr
chr17
Chr Start
7578457
Chr End
7578457
Ref Allele
C
Alt Allele
A
HGVS cDNA Change
c.473G>T
HGVS Protein Change
p.R158L
Existing Variant
CM994513,CM102353,TP53_g.12461G>T,COSM10690,COSM10714,COSM1640853,COSM1649375,COSM1649376,COSM1649377,COSM1649378,COSM1649379,COSM220778,COSM220779,COSM220780,COSM220781,COSM3378357,COSM4271943,COSM43615
Variant Class
Missense_Mutation
Total Reads
466
PolyPhen
probably_damaging(0.988)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function