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Overview
Mutation
Expression
Methylation
Prognosis
Literature
Timeline
Colon Cancer: Gene >> PINK1
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20638079:20638079(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.625C>T
AA Mutation
p.Pro209Ser(p.P209S)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20645610:20645610(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs184043309
CDS Mutation
c.1010G>A
AA Mutation
p.Arg337His(p.R337H)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20638063:20638063(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.609A>C
AA Mutation
p.Glu203Asp(p.E203D)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20650680:20650680(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1735G>A
AA Mutation
p.Ala579Thr(p.A579T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20649095:20649095(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1352A>C
AA Mutation
p.Asn451Thr(p.N451T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20645648:20645648(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs764648391
CDS Mutation
c.1048G>A
AA Mutation
p.Val350Met(p.V350M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20644522:20644522(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.809C>A
AA Mutation
p.Pro270His(p.P270H)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20645676:20645676(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs780580396
CDS Mutation
c.1076C>T
AA Mutation
p.Ala359Val(p.A359V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20648627:20648627(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1246C>A
AA Mutation
p.Pro416Thr(p.P416T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
missense_variant
Transcription ID
ENST00000321556
Start
20650642:20650642(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs777903263
CDS Mutation
c.1697C>T
AA Mutation
p.Thr566Met(p.T566M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000321556
Start
20650589:20650589(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1644T>C
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
12
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000321556
Start
20637868:20637868(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs773637957
CDS Mutation
c.414G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
13
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000321556
Start
20650480:20650480(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
null
CDS Mutation
c.1538delG
AA Mutation
p.Gly513ValfsTer5(p.G513Vfs*5)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Rectum Cancer: Gene >> PINK1
No Mutation Annotation!