Primary Site >> Liver Cancer

Gene >> EPHX1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000272167
Start 225842402:225842402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.968C>A
AA Mutation p.Ala323Asp(p.A323D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000272167
Start 225842383:225842383(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.949T>A
AA Mutation p.Ser317Thr(p.S317T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000272167
Start 225845307:225845307(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1328A>C
AA Mutation p.Gln443Pro(p.Q443P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000272167
Start 225839895:225839895(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.789C>T
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000272167
Start 225845227:225845261(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1250_1284delACCCAAAGCTCATCTCCTATTCCTACATGGTTCGT
AA Mutation p.Tyr417TrpfsTer8(p.Y417Wfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript