Primary Site >> Liver Cancer

Gene >> SMAD4

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51048819:51048819(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.383T>C
AA Mutation p.Val128Ala(p.V128A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067035:51067035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1156G>A
AA Mutation p.Gly386Ser(p.G386S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078377:51078377(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1569C>G
AA Mutation p.Cys523Trp(p.C523W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065549:51065549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377767347
CDS Mutation c.1082G>A
AA Mutation p.Arg361His(p.R361H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51048723:51048723(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.289delC
AA Mutation p.Arg97ValfsTer13(p.R97Vfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript