Primary Site >> Liver Cancer

Gene >> NOVA1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000539517
Start 26448498:26448498(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.985C>A
AA Mutation p.Leu329Ile(p.L329I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000539517
Start 26480134:26480134(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.290A>T
AA Mutation p.Glu97Val(p.E97V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000539517
Start 26480039:26480039(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.385A>G
AA Mutation p.Lys129Glu(p.K129E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000539517
Start 26480061:26480061(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.363A>C
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000539517
Start 26448130:26448130(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1353T>A
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000539517
Start 26448050:26448050(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1433delC
AA Mutation p.Pro478GlnfsTer10(p.P478Qfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000539517
Start 26595464:26595464(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.226C>T
AA Mutation p.Gln76Ter(p.Q76*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript