Primary Site >> Esophagus Cancer

Gene >> TOP1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000361337
Start 41092521:41092521(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.664C>T
AA Mutation p.His222Tyr(p.H222Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000361337
Start 41116294:41116294(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1724A>C
AA Mutation p.Lys575Thr(p.K575T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000361337
Start 41122007:41122008(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2049_2073dupAGTAGAGTCAAAGAAGAAGGCTGTT
AA Mutation p.Gln692SerfsTer29(p.Q692Sfs*29)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 4
Mutation Consequence inframe_deletion;splice_region_variant
Transcription ID ENST00000361337
Start 41081238:41081240(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.506_507+1delAGG
Mutation Classification In_Frame_Del
Feature Type Transcript