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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
125672
Open Patient
Specimen ID
216-R
Open Specimen
Sample ID
J1-PDC
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7577538
Chr End
7577538
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.743G>A
HGVS Protein Change
p.R248Q
Existing Variant
rs11540652,CM920675,TP53_g.13380G>A,COSM10662,COSM11491,COSM1640830,COSM1646857,COSM1646858,COSM241994,COSM241995,COSM241996,COSM3356964,COSM3378346,COSM340105,COSM340106,COSM340107,COSM3726799,COSM46135,COSM6549,COSM99020,COSM99021,COSM99602
Variant Class
Missense_Mutation
Total Reads
183
PolyPhen
probably_damaging(0.994)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function