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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
594176
Open Patient
Specimen ID
295-R
Open Specimen
Sample ID
J2-PDC
Open Sample
OncoKB Version
v7.1
Chr
chr17
Chr Start
7578415
Chr End
7578415
Ref Allele
A
Alt Allele
T
HGVS cDNA Change
c.515T>A
HGVS Protein Change
p.V172D
Existing Variant
TP53_g.12503T>A,COSM1161213,COSM1161214,COSM1161215,COSM1161216,COSM4333323,COSM4333324,COSM44229,COSM44996,COSM45047,COSM4859924
Variant Class
Missense_Mutation
Total Reads
125
PolyPhen
probably_damaging(0.997)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function