Primary Site >> Esophagus Cancer

Gene >> CHL1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000397491
Start 344601:344601(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.692A>C
AA Mutation p.Lys231Thr(p.K231T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000397491
Start 391159:391159(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2743G>A
AA Mutation p.Val915Ile(p.V915I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000397491
Start 363252:363252(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1406G>A
AA Mutation p.Arg469Lys(p.R469K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000397491
Start 382275:382275(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1925T>G
AA Mutation p.Ile642Ser(p.I642S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000397491
Start 398304:398304(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3124G>T
AA Mutation p.Glu1042Ter(p.E1042*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript