Primary Site >> Pancreatic Cancer

Gene >> NPC1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000269228
Start 23556337:23556337(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs77080672
CDS Mutation c.1232G>A
AA Mutation p.Arg411Gln(p.R411Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000269228
Start 23554870:23554870(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1441A>G
AA Mutation p.Ile481Val(p.I481V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000269228
Start 23568849:23568849(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.437A>G
AA Mutation p.Tyr146Cys(p.Y146C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000269228
Start 23541422:23541422(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146874573
CDS Mutation c.2257G>A
AA Mutation p.Val753Met(p.V753M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000269228
Start 23541185:23541185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2397C>A
AA Mutation p.Cys799Ter(p.C799*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript