Primary Site >> Liver Cancer

Gene >> MIA3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000344922
Start 222628999:222628999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1779C>G
AA Mutation p.Asp593Glu(p.D593E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000344922
Start 222627722:222627722(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.502A>T
AA Mutation p.Asn168Tyr(p.N168Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000344922
Start 222618124:222618124(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14C>G
AA Mutation p.Pro5Arg(p.P5R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000344922
Start 222628269:222628269(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1049A>G
AA Mutation p.Tyr350Cys(p.Y350C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000344922
Start 222632180:222632180(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766911071
CDS Mutation c.3185A>G
AA Mutation p.His1062Arg(p.H1062R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000344922
Start 222628510:222628510(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1290A>T
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000344922
Start 222629314:222629314(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2096delG
AA Mutation p.Gly699AlafsTer4(p.G699Afs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000344922
Start 222648847:222648847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3628C>T
AA Mutation p.Gln1210Ter(p.Q1210*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript