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Sample (PDX or In Vitro Culture)
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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
131542
Open Patient
Specimen ID
069-R
Open Specimen
Sample ID
ENHD23GY0
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7577532
Chr End
7577532
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.749C>T
HGVS Protein Change
p.P250L
Existing Variant
CM973401,TP53_g.13386C>T,COSM10771,COSM1646862,COSM212111,COSM212112,COSM212254,COSM212255,COSM3378345,COSM44476,COSM45344
Variant Class
Missense_Mutation
Total Reads
118
PolyPhen
probably_damaging(0.998)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function