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/ Colorectal Cancer-Mutation
Primary Site >> Colorectal Cancer
Overview
Mutation
Expression
Methylation
Prognosis
Literature
Timeline
Colon Cancer: Gene >> PNPLA2
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000336615
Start
821962:821962(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs758738508
CDS Mutation
c.425A>G
AA Mutation
p.Asn142Ser(p.N142S)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant;splice_region_variant
Transcription ID
ENST00000336615
Start
822398:822398(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs746987189
CDS Mutation
c.488G>A
AA Mutation
p.Arg163His(p.R163H)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000336615
Start
823843:823843(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.907C>T
AA Mutation
p.Arg303Trp(p.R303W)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000336615
Start
822526:822526(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs145699347
CDS Mutation
c.616C>T
AA Mutation
p.Arg206Trp(p.R206W)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000336615
Start
823582:823582(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.752G>A
AA Mutation
p.Arg251Gln(p.R251Q)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Rectum Cancer: Gene >> PNPLA2
No Mutation Annotation!