Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PSEN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000324501
Start 73198066:73198066(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.805C>T
AA Mutation p.Arg269Cys(p.R269C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000324501
Start 73173634:73173634(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.407C>T
AA Mutation p.Ala136Val(p.A136V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000324501
Start 73148099:73148099(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149562759
CDS Mutation c.80G>A
AA Mutation p.Arg27His(p.R27H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000324501
Start 73192832:73192832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.737C>T
AA Mutation p.Ala246Val(p.A246V)
Mutation Classification Missense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> PSEN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000324501
Start 73170998:73170998(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs63750852
CDS Mutation c.289G>A
AA Mutation p.Val97Met(p.V97M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000324501
Start 73206426:73206426(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377053325
CDS Mutation c.909G>A
Mutation Classification Silent
Feature Type Transcript