Primary Site >> Esophagus Cancer

Gene >> LRP5

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000294304
Start 68357765:68357765(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.604A>T
AA Mutation p.Ile202Phe(p.I202F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000294304
Start 68389919:68389919(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1451T>C
AA Mutation p.Ile484Thr(p.I484T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000294304
Start 68413828:68413828(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2643C>G
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000294304
Start 68406550:68406550(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1833delG
AA Mutation p.Cys612AlafsTer23(p.C612Afs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000294304
Start 68363825:68363825(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.765G>A
AA Mutation p.Trp255Ter(p.W255*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000294304
Start 68413790:68413791(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2611_2627dupGCCGACAAGACTAGCGG
AA Mutation p.Arg877ProfsTer19(p.R877Pfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript