Primary Site >> Liver Cancer

Gene >> HMGCS1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000325110
Start 43298839:43298839(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.127G>T
AA Mutation p.Asp43Tyr(p.D43Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000325110
Start 43297098:43297098(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778890257
CDS Mutation c.643A>G
AA Mutation p.Ile215Val(p.I215V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000325110
Start 43291166:43291166(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754716585
CDS Mutation c.1528C>A
AA Mutation p.Pro510Thr(p.P510T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000325110
Start 43298737:43298737(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.229delA
AA Mutation p.Met77TrpfsTer28(p.M77Wfs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript