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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
415267
Open Patient
Specimen ID
285-R
Open Specimen
Sample ID
J2-PDC
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7577120
Chr End
7577120
Ref Allele
C
Alt Allele
T
HGVS cDNA Change
c.818G>A
HGVS Protein Change
p.R273H
Existing Variant
rs28934576,CM920677,CM004342,CM010472,TP53_g.13798G>A,COSM10660,COSM10779,COSM1640828,COSM1645335,COSM1646808,COSM165077,COSM318169,COSM3356963,COSM3675521,COSM3726798,COSM43896,COSM44440,COSM99729
Variant Class
Missense_Mutation
Total Reads
131
PolyPhen
possibly_damaging(0.643)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Loss-of-function