Primary Site >> Esophagus Cancer

Gene >> TSC2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000219476
Start 2081768:2081768(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3784A>G
AA Mutation p.Lys1262Glu(p.K1262E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000219476
Start 2076498:2076498(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397515046
CDS Mutation c.2750G>A
AA Mutation p.Arg917Gln(p.R917Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000219476
Start 2060682:2060682(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.988C>G
AA Mutation p.Pro330Ala(p.P330A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000219476
Start 2053375:2053375(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.259G>T
AA Mutation p.Asp87Tyr(p.D87Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000219476
Start 2080298:2080298(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3531G>A
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000219476
Start 2084251:2084251(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4029G>A
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000219476
Start 2076083:2076083(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2655C>T
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000219476
Start 2061976:2061976(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1225G>T
AA Mutation p.Glu409Ter(p.E409*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript