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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
172845
Open Patient
Specimen ID
142-T
Open Specimen
Sample ID
M80J09J83
Open Sample
OncoKB Version
Chr
chr3
Chr Start
49723167
Chr End
49723167
Ref Allele
T
Alt Allele
G
HGVS cDNA Change
c.1251-2A>C
HGVS Protein Change
p.X417_splice
Existing Variant
rs9714011
Variant Class
Splice_Site
Total Reads
125
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function