Primary Site >> Liver Cancer

Gene >> SMC2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104102468:104102468(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.915G>T
AA Mutation p.Glu305Asp(p.E305D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence frameshift_variant
Transcription ID ENST00000286398
Start 104123220:104123220(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2251delA
AA Mutation p.Thr751ProfsTer9(p.T751Pfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000286398
Start 104100141:104100141(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.535delA
AA Mutation p.Ile179Ter(p.I179*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence splice_donor_variant
Transcription ID ENST00000286398
Start 104132127:104132127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3108+2T>G
Mutation Classification Splice_Site
Feature Type Transcript