Primary Site >> Esophagus Cancer

Gene >> ATM

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108279550:108279550(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3344T>C
AA Mutation p.Leu1115Pro(p.L1115P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108315862:108315862(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6046G>C
AA Mutation p.Asp2016His(p.D2016H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108293374:108293374(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587781712
CDS Mutation c.4673C>T
AA Mutation p.Thr1558Met(p.T1558M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000278616
Start 108284472:108284472(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3992A>G
AA Mutation p.Gln1331Arg(p.Q1331R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108272801:108272801(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3233T>G
AA Mutation p.Leu1078Arg(p.L1078R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108343255:108343255(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8302G>C
AA Mutation p.Glu2768Gln(p.E2768Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000278616
Start 108332854:108332854(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7881T>C
Mutation Classification Silent
Feature Type Transcript