Primary Site >> Esophagus Cancer

Gene >> RRBP1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000377807
Start 17660435:17660435(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.73A>T
AA Mutation p.Ile25Phe(p.I25F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000377807
Start 17618611:17618611(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371408403
CDS Mutation c.2445C>T
Mutation Classification Silent
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000377807
Start 17627564:17627567(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1566_1569delGAGA
AA Mutation p.Arg523SerfsTer59(p.R523Sfs*59)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000377807
Start 17658611:17658611(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.607A>T
AA Mutation p.Lys203Ter(p.K203*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript