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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
535342
Open Patient
Specimen ID
205-R
Open Specimen
Sample ID
AL-Y4A_AL-ND4
Open Sample
OncoKB Version
v3.14
Chr
chr17
Chr Start
7578454
Chr End
7578454
Ref Allele
G
Alt Allele
T
HGVS cDNA Change
c.476C>A
HGVS Protein Change
p.A159D
Existing Variant
TP53_g.12464C>A,COSM11148,COSM11496,COSM2744893,COSM2744894,COSM2744895,COSM2744896,COSM2744897,COSM2744898,COSM288919,COSM288920,COSM288921,COSM288922,COSM3388216,COSM4271942
Variant Class
Missense_Mutation
Total Reads
214
PolyPhen
probably_damaging(0.983)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Likely Loss-of-function