Primary Site >> Esophagus Cancer

Gene >> BARD1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000260947
Start 214745154:214745154(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1816C>A
AA Mutation p.His606Asn(p.H606N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000260947
Start 214781074:214781074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.800C>A
AA Mutation p.Thr267Lys(p.T267K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000260947
Start 214728709:214728709(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2301G>C
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000260947
Start 214781483:214781484(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.390_391delAA
AA Mutation p.Ser131PhefsTer3(p.S131Ffs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000260947
Start 214781449:214781449(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.425C>A
AA Mutation p.Ser142Ter(p.S142*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript