Primary Site >> Liver Cancer

Gene >> AKR1C2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000380753
Start 5003818:5003818(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18G>T
AA Mutation p.Gln6His(p.Q6H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000380753
Start 5001546:5001546(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.220G>A
AA Mutation p.Val74Met(p.V74M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000380753
Start 4995345:4995345(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.820G>A
AA Mutation p.Glu274Lys(p.E274K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000380753
Start 4990023:4990024(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.944dupC
AA Mutation p.Asn316Ter(p.N316*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript