Primary Site >> Liver Cancer

Gene >> H6PD

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000377403
Start 9264430:9264430(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1937T>A
AA Mutation p.Ile646Asn(p.I646N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence frameshift_variant
Transcription ID ENST00000377403
Start 9263656:9263678(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1167_1189delGCAGAGCCAGTGCCTGCCCCGGC
AA Mutation p.Gln390AlafsTer99(p.Q390Afs*99)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 3
Mutation Consequence stop_gained
Transcription ID ENST00000377403
Start 9245435:9245435(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.501G>A
AA Mutation p.Trp167Ter(p.W167*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript