Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> REEP5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000379638
Start 112921187:112921187(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.188G>A
AA Mutation p.Gly63Glu(p.G63E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000379638
Start 112887110:112887110(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755142860
CDS Mutation c.425G>A
AA Mutation p.Arg142His(p.R142H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000379638
Start 112902447:112902447(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.284T>G
AA Mutation p.Val95Gly(p.V95G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000379638
Start 112921210:112921210(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.165C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000379638
Start 112887155:112887155(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.380delC
AA Mutation p.Pro127ArgfsTer20(p.P127Rfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 6
Mutation Consequence inframe_deletion
Transcription ID ENST00000379638
Start 112922123:112922125(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.66_68delTCT
AA Mutation p.Leu23del(p.L23del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> REEP5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000379638
Start 112887119:112887119(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138223212
CDS Mutation c.416G>A
AA Mutation p.Arg139His(p.R139H)
Mutation Classification Missense_Mutation
Feature Type Transcript