Primary Site >> Esophagus Cancer

Gene >> NBN

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000265433
Start 89978232:89978232(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.572C>A
AA Mutation p.Pro191Gln(p.P191Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000265433
Start 89981449:89981449(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.246A>T
AA Mutation p.Lys82Asn(p.K82N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000265433
Start 89971282:89971282(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.593C>A
AA Mutation p.Pro198Gln(p.P198Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000265433
Start 89937028:89937028(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2232delT
AA Mutation p.Phe744LeufsTer7(p.F744Lfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript