Primary Site >> Stomach Cancer

Gene >> PSEN1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000324501
Start 73219149:73219149(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1264T>G
AA Mutation p.Leu422Val(p.L422V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000324501
Start 73170942:73170942(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.233G>A
AA Mutation p.Gly78Asp(p.G78D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000324501
Start 73170975:73170975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.266T>C
AA Mutation p.Val89Ala(p.V89A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000324501
Start 73219165:73219165(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1283delT
AA Mutation p.Phe428SerfsTer33(p.F428Sfs*33)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence inframe_deletion
Transcription ID ENST00000324501
Start 73206414:73206416(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.899_901delAAG
AA Mutation p.Glu300del(p.E300del)
Mutation Classification In_Frame_Del
Feature Type Transcript