Primary Site >> Esophagus Cancer

Gene >> ITK

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000422843
Start 157180987:157180987(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10T>G
AA Mutation p.Phe4Val(p.F4V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000422843
Start 157214251:157214251(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.386A>T
AA Mutation p.Lys129Met(p.K129M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000422843
Start 157211338:157211338(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.295C>T
AA Mutation p.Arg99Trp(p.R99W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000422843
Start 157222883:157222883(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.516A>C
AA Mutation p.Glu172Asp(p.E172D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000422843
Start 157244327:157244327(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1298T>G
AA Mutation p.Leu433Arg(p.L433R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000422843
Start 157244336:157244336(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1307A>C
AA Mutation p.Glu436Ala(p.E436A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000422843
Start 157222937:157222937(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764897415
CDS Mutation c.570C>T
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000422843
Start 157181040:157181040(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63T>G
Mutation Classification Silent
Feature Type Transcript
ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000422843
Start 157252668:157252668(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1853C>A
AA Mutation p.Ser618Ter(p.S618*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript