Primary Site >> Liver Cancer

Gene >> RB1CC1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000025008
Start 52642558:52642558(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768037976
CDS Mutation c.4130G>A
AA Mutation p.Arg1377His(p.R1377H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000025008
Start 52683942:52683942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766400698
CDS Mutation c.143A>G
AA Mutation p.Asn48Ser(p.N48S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000025008
Start 52656965:52656965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2864G>A
AA Mutation p.Arg955Gln(p.R955Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000025008
Start 52628159:52628159(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4509G>T
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000025008
Start 52623785:52623785(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145350535
CDS Mutation c.4782A>G
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000025008
Start 52628158:52628158(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4510G>T
AA Mutation p.Gly1504Ter(p.G1504*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000025008
Start 52628170:52628170(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4500-2A>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 8
Mutation Consequence splice_donor_variant
Transcription ID ENST00000025008
Start 52660595:52660595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1689+1G>A
Mutation Classification Splice_Site
Feature Type Transcript