Primary Site >> Liver Cancer

Gene >> PBRM1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000296302
Start 52564066:52564066(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3859G>A
AA Mutation p.Glu1287Lys(p.E1287K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000296302
Start 52561926:52561926(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4129T>G
AA Mutation p.Ser1377Ala(p.S1377A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000296302
Start 52550490:52550490(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4828T>C
AA Mutation p.Tyr1610His(p.Y1610H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000296302
Start 52564185:52564185(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3740C>T
AA Mutation p.Thr1247Ile(p.T1247I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000296302
Start 52628923:52628923(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1414C>T
AA Mutation p.Arg472Ter(p.R472*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000296302
Start 52634654:52634655(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1248dupA
AA Mutation p.Tyr417IlefsTer3(p.Y417Ifs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript