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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
147741
Open Patient
Specimen ID
191-M
Open Specimen
Sample ID
AL-K89_DS2-AL-T55_DS1-W62
Open Sample
OncoKB Version
v4.4
Chr
chr19
Chr Start
52715983
Chr End
52715983
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.548G>A
HGVS Protein Change
p.R183Q
Existing Variant
rs1057519947,COSM1681305,COSM51253
Variant Class
Missense_Mutation
Total Reads
130
PolyPhen
possibly_damaging(0.824)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function