Primary Site >> Stomach Cancer

Gene >> CHEK2

ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000328354
Start 28694033:28694033(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1460A>G
AA Mutation p.Gln487Arg(p.Q487R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000328354
Start 28725355:28725355(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.332A>G
AA Mutation p.Asp111Gly(p.D111G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000328354
Start 28725108:28725108(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.461A>G
AA Mutation p.Asn154Ser(p.N154S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000328354
Start 28694072:28694072(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121908706
CDS Mutation c.1421G>A
AA Mutation p.Arg474His(p.R474H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000328354
Start 28725029:28725029(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.540C>A
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000328354
Start 28695790:28695790(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1179delT
AA Mutation p.Glu394LysfsTer20(p.E394Kfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000328354
Start 28719472:28719472(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.606delT
AA Mutation p.Phe202LeufsTer3(p.F202Lfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000328354
Start 28695874:28695874(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1096-1G>A
Mutation Classification Splice_Site
Feature Type Transcript