Primary Site >> Liver Cancer

Gene >> THBS2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000366787
Start 169246244:169246244(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.647C>A
AA Mutation p.Ser216Tyr(p.S216Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366787
Start 169250735:169250735(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.50A>C
AA Mutation p.Gln17Pro(p.Q17P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000366787
Start 169237742:169237742(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs577676627
CDS Mutation c.1183G>A
AA Mutation p.Val395Met(p.V395M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000366787
Start 169232703:169232703(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748776522
CDS Mutation c.1893C>T
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000366787
Start 169239639:169239639(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1089A>G
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000366787
Start 169239606:169239606(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1122C>A
AA Mutation p.Cys374Ter(p.C374*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000366787
Start 169220339:169220339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3372-2A>C
Mutation Classification Splice_Site
Feature Type Transcript