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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
H70HC4
Open Sample
OncoKB Version
v3.14
Chr
chrX
Chr Start
39916463
Chr End
39916463
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.4540C>T
HGVS Protein Change
p.R1514*
Existing Variant
CM0910704,COSM1121126,COSM1599459,COSM4109398,COSM5702547,COSM5702548,COSM5702549
Variant Class
Nonsense_Mutation
Total Reads
69
PolyPhen
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function