Primary Site >> Esophagus Cancer

Gene >> FANCD2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10067306:10067306(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2483A>C
AA Mutation p.Lys828Thr(p.K828T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10085825:10085825(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3238C>G
AA Mutation p.Gln1080Glu(p.Q1080E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000383807
Start 10064765:10064765(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773593671
CDS Mutation c.2058G>A
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000383807
Start 10090313:10090313(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3705C>T
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000383807
Start 10065449:10065449(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2224G>T
AA Mutation p.Glu742Ter(p.E742*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript