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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
K03247
Open Patient
Specimen ID
164-R
Open Specimen
Sample ID
AL-K4T_AL-M837
Open Sample
OncoKB Version
Chr
chr17
Chr Start
29670154
Chr End
29670154
Ref Allele
G
Alt Allele
C
HGVS cDNA Change
c.7189+1G>C
HGVS Protein Change
p.X2397_splice
Existing Variant
COSM5609544,COSM5609545,COSM5609546
Variant Class
Splice_Site
Total Reads
87
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function