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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
787684
Open Patient
Specimen ID
078-R
Open Specimen
Sample ID
E1CQ70W27W77VUEWP2M440
Open Sample
OncoKB Version
v4.6
Chr
chr19
Chr Start
2222175
Chr End
2222175
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.3007G>A
HGVS Protein Change
p.A1003T
Existing Variant
rs923183589,COSM5698326,COSM5698327
Variant Class
Missense_Mutation
Total Reads
521
PolyPhen
benign(0.017)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Gain-of-function