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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
116655
Open Patient
Specimen ID
072-R
Open Specimen
Sample ID
AK7A20
Open Sample
OncoKB Version
v3.14
Chr
chr7
Chr Start
140453136
Chr End
140453136
Ref Allele
A
Alt Allele
T
HGVS cDNA Change
c.1799T>A
HGVS Protein Change
p.V600E
Existing Variant
CM112509,rs113488022,COSM18443,COSM476,COSM6137
Variant Class
Missense_Mutation
Total Reads
63
PolyPhen
probably_damaging(0.963)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function