Primary Site >> Esophagus Cancer

Gene >> NPAT

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000278612
Start 108161113:108161113(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3973G>C
AA Mutation p.Glu1325Gln(p.E1325Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000278612
Start 108161780:108161780(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3306T>C
Mutation Classification Silent
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000278612
Start 108173342:108173342(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1642delA
AA Mutation p.Ser548ValfsTer11(p.S548Vfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000278612
Start 108188181:108188181(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.557-2A>T
Mutation Classification Splice_Site
Feature Type Transcript