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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
625472
Open Patient
Specimen ID
104-R
Open Specimen
Sample ID
H69
Open Sample
OncoKB Version
v3.14
Chr
chr1
Chr Start
155874589
Chr End
155874589
Ref Allele
G
Alt Allele
T
HGVS cDNA Change
c.170C>A
HGVS Protein Change
p.A57D
Existing Variant
COSM1747807
Variant Class
Missense_Mutation
Total Reads
552
PolyPhen
probably_damaging(0.991)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Gain-of-function