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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
119177
Open Patient
Specimen ID
322-R1
Open Specimen
Sample ID
PXWJH4KA1
Open Sample
OncoKB Version
v3.14
Chr
chr5
Chr Start
1293767
Chr End
1293767
Ref Allele
G
Alt Allele
A
HGVS cDNA Change
c.1234C>T
HGVS Protein Change
p.H412Y
Existing Variant
rs34094720,CM054144
Variant Class
Missense_Mutation
Total Reads
251
PolyPhen
possibly_damaging(0.897)
Oncogenicity
Likely Oncogenic
Predicted
Functional Effect
Loss-of-function