Primary Site >> Esophagus Cancer

Gene >> EPAS1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46346981:46346981(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.135C>A
AA Mutation p.His45Gln(p.H45Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46382512:46382512(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2375G>A
AA Mutation p.Gly792Glu(p.G792E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46360699:46360699(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.516G>A
AA Mutation p.Met172Ile(p.M172I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000263734
Start 46381641:46381641(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769061243
CDS Mutation c.2091G>A
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000263734
Start 46380370:46380371(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1699dupA
AA Mutation p.Met567AsnfsTer44(p.M567Nfs*44)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript