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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
114348
Open Patient
Specimen ID
004-R
Open Specimen
Sample ID
ATHY22E99
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7577539
Chr End
7577539
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.742C>T
HGVS Protein Change
p.R248W
Existing Variant
rs121912651,CM900211,CM010465,COSM10656,COSM11564,COSM1189381,COSM1189382,COSM1189383,COSM120005,COSM120006,COSM120007,COSM1640831,COSM2744594,COSM3388183,COSM4271789,COSM44920,COSM45116
Variant Class
Missense_Mutation
Total Reads
121
PolyPhen
probably_damaging(1)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Loss-of-function