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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
833975
Open Patient
Specimen ID
119-R
Open Specimen
Sample ID
EN3
Open Sample
OncoKB Version
v3.14
Chr
chr13
Chr Start
48881420
Chr End
48881420
Ref Allele
G
Alt Allele
T
HGVS cDNA Change
c.142G>T
HGVS Protein Change
p.E48*
Existing Variant
COSM5680476,COSM5680477
Variant Class
Nonsense_Mutation
Total Reads
29
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function