Primary Site >> Esophagus Cancer

Gene >> PIGR

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000356495
Start 206939347:206939347(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.160T>C
AA Mutation p.Tyr54His(p.Y54H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000356495
Start 206935664:206935664(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1200C>A
AA Mutation p.Asp400Glu(p.D400E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000356495
Start 206937129:206937129(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148222338
CDS Mutation c.1011G>A
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000356495
Start 206939335:206939335(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.172C>T
AA Mutation p.Gln58Ter(p.Q58*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript