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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
937748
Open Patient
Specimen ID
129-R
Open Specimen
Sample ID
E6CQ84T46
Open Sample
OncoKB Version
v4.12
Chr
chr7
Chr Start
148506467
Chr End
148506467
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.2045C>T
HGVS Protein Change
p.A682V
Existing Variant
COSM1315851,COSM220386
Variant Class
Missense_Mutation
Total Reads
70
PolyPhen
probably_damaging(0.996)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Gain-of-function