Primary Site >> Liver Cancer

Gene >> STXBP5L

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000273666
Start 121240483:121240483(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764116141
CDS Mutation c.1376C>G
AA Mutation p.Thr459Arg(p.T459R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000273666
Start 121407454:121407454(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2871A>T
AA Mutation p.Gln957His(p.Q957H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000273666
Start 121157618:121157618(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371884493
CDS Mutation c.868A>G
AA Mutation p.Ile290Val(p.I290V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000273666
Start 121223004:121223004(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757487745
CDS Mutation c.958G>A
AA Mutation p.Glu320Lys(p.E320K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000273666
Start 121279928:121279928(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2082T>A
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000273666
Start 121152475:121152475(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.670-2A>G
Mutation Classification Splice_Site
Feature Type Transcript