Primary Site >> Liver Cancer

Gene >> DYRK1A

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000398960
Start 37472801:37472801(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750600368
CDS Mutation c.128G>A
AA Mutation p.Arg43His(p.R43H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000398960
Start 37478300:37478300(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.327G>C
AA Mutation p.Glu109Asp(p.E109D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000398960
Start 37480649:37480649(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.344delA
AA Mutation p.Lys115ArgfsTer35(p.K115Rfs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000398960
Start 37493134:37493134(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1069G>T
AA Mutation p.Gly357Ter(p.G357*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000398960
Start 37505352:37505352(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs724159953
CDS Mutation c.1309C>T
AA Mutation p.Arg437Ter(p.R437*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000398960
Start 37493015:37493015(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.952-2A>T
Mutation Classification Splice_Site
Feature Type Transcript