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/ Colorectal Cancer-Mutation
Primary Site >> Colorectal Cancer
Overview
Mutation
Expression
Methylation
Prognosis
Literature
Timeline
Colon Cancer: Gene >> AQP1
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000311813
Start
30923478:30923478(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.659G>T
AA Mutation
p.Gly220Val(p.G220V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000311813
Start
30912100:30912100(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.191C>T
AA Mutation
p.Ala64Val(p.A64V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000311813
Start
30912187:30912187(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs183830991
CDS Mutation
c.278G>A
AA Mutation
p.Arg93His(p.R93H)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000311813
Start
30922137:30922137(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs28362730
CDS Mutation
c.456C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000311813
Start
30923494:30923494(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.675C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000311813
Start
30922184:30922184(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
null
CDS Mutation
c.508delC
AA Mutation
p.Ala171ProfsTer6(p.A171Pfs*6)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Rectum Cancer: Gene >> AQP1
No Mutation Annotation!