Primary Site >> Liver Cancer

Gene >> MAN2C1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000267978
Start 75367597:75367597(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.265C>G
AA Mutation p.Pro89Ala(p.P89A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000267978
Start 75368160:75368160(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.140G>T
AA Mutation p.Ser47Ile(p.S47I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000267978
Start 75359329:75359329(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2045A>C
AA Mutation p.Glu682Ala(p.E682A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000267978
Start 75368512:75368548(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.36_72delCACGCTGGAGCGGGTGGAGAAGTTCGTGTCGCCGCTC
AA Mutation p.Glu15ProfsTer23(p.E15Pfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000267978
Start 75359330:75359330(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2044G>T
AA Mutation p.Glu682Ter(p.E682*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript