Primary Site >> Liver Cancer

Gene >> NF2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29639170:29639170(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.321G>T
AA Mutation p.Glu107Asp(p.E107D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29654707:29654707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.498G>T
AA Mutation p.Glu166Asp(p.E166D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29673398:29673398(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765540111
CDS Mutation c.1252C>T
AA Mutation p.Arg418Cys(p.R418C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000338641
Start 29642268:29642269(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.431dupA
AA Mutation p.Tyr144Ter(p.Y144*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000338641
Start 29639171:29639171(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.322G>T
AA Mutation p.Glu108Ter(p.E108*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000338641
Start 29673425:29673425(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1279G>T
AA Mutation p.Glu427Ter(p.E427*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript