Primary Site >> Esophagus Cancer

Gene >> SLC22A2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000366953
Start 160243718:160243718(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1133T>A
AA Mutation p.Leu378Gln(p.L378Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000366953
Start 160258512:160258512(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756494902
CDS Mutation c.246C>T
Mutation Classification Silent
Feature Type Transcript
ID 3
Mutation Consequence stop_gained
Transcription ID ENST00000366953
Start 160243720:160243720(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1131C>A
AA Mutation p.Tyr377Ter(p.Y377*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000366953
Start 160247273:160247274(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.867dupG
AA Mutation p.Leu290AlafsTer6(p.L290Afs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript