Primary Site >> Esophagus Cancer

Gene >> LOXL2

ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000389131
Start 23309911:23309911(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1637C>T
AA Mutation p.Thr546Ile(p.T546I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389131
Start 23333462:23333462(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.905T>A
AA Mutation p.Val302Glu(p.V302E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389131
Start 23368059:23368059(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138761125
CDS Mutation c.293G>A
AA Mutation p.Arg98Gln(p.R98Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000389131
Start 23328553:23328553(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773669008
CDS Mutation c.979C>T
AA Mutation p.Arg327Ter(p.R327*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript