Primary Site >> Stomach Cancer

Gene >> SMAD7

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262158
Start 48921668:48921668(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.985G>A
AA Mutation p.Gly329Ser(p.G329S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262158
Start 48921649:48921649(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759611060
CDS Mutation c.1004G>A
AA Mutation p.Arg335His(p.R335H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262158
Start 48949847:48949847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.578G>A
AA Mutation p.Cys193Tyr(p.C193Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262158
Start 48921844:48921844(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.809A>T
AA Mutation p.Lys270Met(p.K270M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000262158
Start 48948425:48948425(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.626delC
AA Mutation p.Pro209LeufsTer115(p.P209Lfs*115)
Mutation Classification Frame_Shift_Del
Feature Type Transcript