Primary Site >> Esophagus Cancer

Gene >> MSH6

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000234420
Start 47806470:47806470(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3820G>C
AA Mutation p.Glu1274Gln(p.E1274Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000234420
Start 47798985:47798985(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1002G>C
AA Mutation p.Lys334Asn(p.K334N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000234420
Start 47798773:47798773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.790G>A
AA Mutation p.Glu264Lys(p.E264K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000234420
Start 47803444:47803444(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372103816
CDS Mutation c.3197A>G
AA Mutation p.Tyr1066Cys(p.Y1066C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000234420
Start 47795994:47795995(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.562_563insGAAGA
AA Mutation p.Ile188ArgfsTer25(p.I188Rfs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript