Primary Site >> Pancreatic Cancer

Gene >> FBN2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128395202:128395202(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371826887
CDS Mutation c.1151C>T
AA Mutation p.Thr384Met(p.T384M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128289193:128289193(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6571G>A
AA Mutation p.Asp2191Asn(p.D2191N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128530654:128530654(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs528614556
CDS Mutation c.377G>A
AA Mutation p.Arg126His(p.R126H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262464
Start 128408674:128408674(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1078G>A
AA Mutation p.Asp360Asn(p.D360N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128335546:128335546(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3756C>A
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000262464
Start 128286745:128286745(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6985C>T
AA Mutation p.Arg2329Ter(p.R2329*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript