Primary Site >> Esophagus Cancer

Gene >> CFTR

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000003084
Start 117594976:117594976(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2537G>T
AA Mutation p.Trp846Leu(p.W846L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000003084
Start 117587808:117587808(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1654C>G
AA Mutation p.Gln552Glu(p.Q552E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000003084
Start 117606693:117606693(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776948957
CDS Mutation c.2928C>A
AA Mutation p.Phe976Leu(p.F976L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000003084
Start 117595008:117595008(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2570delA
AA Mutation p.Lys857ArgfsTer3(p.K857Rfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript