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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
ORIGINATOR
Open Sample
OncoKB Version
v3.14
Chr
chr5
Chr Start
67589313
Chr End
67589313
Ref Allele
T
Alt Allele
C
HGVS cDNA Change
c.1299+2T>C
HGVS Protein Change
p.X433_splice
Existing Variant
COSM3071885,COSM3071886,COSM3071887
Variant Class
Splice_Site
Total Reads
48
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function