Primary Site >> Esophagus Cancer

Gene >> ITGAV

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186630827:186630827(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.554G>A
AA Mutation p.Cys185Tyr(p.C185Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186637092:186637092(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs184114187
CDS Mutation c.785A>G
AA Mutation p.Asn262Ser(p.N262S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186659092:186659092(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200949549
CDS Mutation c.1774C>T
AA Mutation p.Arg592Trp(p.R592W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000261023
Start 186656358:186656358(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1682delG
AA Mutation p.Gly561AspfsTer2(p.G561Dfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript