Primary Site >> Esophagus Cancer

Gene >> PARD3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000374789
Start 34119697:34119697(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3593C>T
AA Mutation p.Ser1198Phe(p.S1198F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000374789
Start 34269820:34269820(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3265A>T
AA Mutation p.Thr1089Ser(p.T1089S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000374789
Start 34111220:34111220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs533880946
CDS Mutation c.4020G>A
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000374789
Start 34378024:34378024(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1482C>T
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000374789
Start 34337295:34337295(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2549C>G
AA Mutation p.Ser850Ter(p.S850*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence stop_gained;inframe_insertion
Transcription ID ENST00000374789
Start 34359233:34359234(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1980_1981insCTTTTGTTTTCAGTTGTTTCTTTGTGCATGTCTACATAG
AA Mutation p.Glu660_Thr661insLeuLeuPheSerValValSerLeuCysMetSerThrTer(p.E660_T661insLLFSVVSLCMST*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000374789
Start 34696402:34696403(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.137dupT
AA Mutation p.Gln47ThrfsTer16(p.Q47Tfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 8
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000374789
Start 34360260:34360260(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1708-1G>C
Mutation Classification Splice_Site
Feature Type Transcript