Primary Site >> Liver Cancer

Gene >> SPHK1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000392496
Start 76387479:76387479(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs55648239
CDS Mutation c.1048G>A
AA Mutation p.Val350Met(p.V350M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000392496
Start 76387422:76387422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.991C>G
AA Mutation p.Pro331Ala(p.P331A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000392496
Start 76385999:76386015(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.25_41delGGCGTGCTCCCGCGGCC
AA Mutation p.Gly9LeufsTer30(p.G9Lfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript