Primary Site >> Esophagus Cancer

Gene >> KIT

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000288135
Start 54738474:54738474(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2848G>T
AA Mutation p.Val950Leu(p.V950L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000288135
Start 54729433:54729433(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2089C>G
AA Mutation p.His697Asp(p.H697D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000288135
Start 54738435:54738435(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2809T>C
AA Mutation p.Ser937Pro(p.S937P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000288135
Start 54727538:54727538(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1770T>G
AA Mutation p.Ser590Arg(p.S590R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000288135
Start 54695723:54695723(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.279C>T
Mutation Classification Silent
Feature Type Transcript