Primary Site >> Liver Cancer

Gene >> CHEK1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000428830
Start 125644132:125644132(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761313560
CDS Mutation c.965G>A
AA Mutation p.Arg322His(p.R322H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000428830
Start 125643813:125643813(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.836C>T
AA Mutation p.Thr279Ile(p.T279I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence stop_gained
Transcription ID ENST00000428830
Start 125644176:125644176(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1009A>T
AA Mutation p.Lys337Ter(p.K337*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000428830
Start 125626787:125626788(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.21dupA
AA Mutation p.Asp8ArgfsTer22(p.D8Rfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript