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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
556579
Open Patient
Specimen ID
094-R
Open Specimen
Sample ID
UWTJT3
Open Sample
OncoKB Version
Chr
chr8
Chr Start
48790414
Chr End
48790414
Ref Allele
T
Alt Allele
G
HGVS cDNA Change
c.5233-2A>C
HGVS Protein Change
p.X1745_splice
Existing Variant
Variant Class
Splice_Site
Total Reads
116
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function