Primary Site >> Esophagus Cancer

Gene >> TJP1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000346128
Start 29708626:29708626(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4783A>G
AA Mutation p.Ile1595Val(p.I1595V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000346128
Start 29766335:29766335(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.520C>T
AA Mutation p.Arg174Trp(p.R174W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000346128
Start 29773237:29773237(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.205C>G
AA Mutation p.Leu69Val(p.L69V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000346128
Start 29719898:29719898(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2882delC
AA Mutation p.Pro961GlnfsTer14(p.P961Qfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript