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/ Colorectal Cancer-Mutation
Primary Site >> Colorectal Cancer
Overview
Mutation
Expression
Methylation
Prognosis
Literature
Timeline
Colon Cancer: Gene >> PMP22
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000312280
Start
15259129:15259129(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.143G>A
AA Mutation
p.Gly48Glu(p.G48E)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000312280
Start
15259169:15259169(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs750000952
CDS Mutation
c.103G>A
AA Mutation
p.Ala35Thr(p.A35T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000312280
Start
15231039:15231039(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.361C>T
AA Mutation
p.His121Tyr(p.H121Y)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000312280
Start
15259185:15259185(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs201192820
CDS Mutation
c.87C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000312280
Start
15239500:15239501(version: GRCh38)
Mutation Type
INS
dbSNP_RS
novel
CDS Mutation
c.289dupT
AA Mutation
p.Tyr97LeufsTer126(p.Y97Lfs*126)
Mutation Classification
Frame_Shift_Ins
Feature Type
Transcript
Rectum Cancer: Gene >> PMP22
No Mutation Annotation!