Primary Site >> Liver Cancer

Gene >> ESR1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 152011739:152011739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1180C>T
AA Mutation p.Arg394Cys(p.R394C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 152094466:152094466(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1451A>G
AA Mutation p.Asp484Gly(p.D484G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence stop_gained
Transcription ID ENST00000206249
Start 151808041:151808041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.129C>A
AA Mutation p.Tyr43Ter(p.Y43*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000206249
Start 152094384:152094384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1370-1G>A
Mutation Classification Splice_Site
Feature Type Transcript