Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> AMACR

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000335606
Start	34008006:34008006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14G>T
AA Mutation	p.Gly5Val(p.G5V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000335606
Start	34004692:34004692(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs113840552
CDS Mutation	c.434C>T
AA Mutation	p.Ala145Val(p.A145V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000335606
Start	33998641:33998641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.739G>A
AA Mutation	p.Gly247Arg(p.G247R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000335606
Start	34004636:34004636(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.490A>G
AA Mutation	p.Ile164Val(p.I164V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000335606
Start	34004608:34004608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201818706
CDS Mutation	c.518G>A
AA Mutation	p.Arg173His(p.R173H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000335606
Start	33989276:33989276(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.966C>T
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> AMACR

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000335606
Start	34004698:34004698(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.428C>T
AA Mutation	p.Pro143Leu(p.P143L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000335606
Start	33989153:33989153(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1089G>T
AA Mutation	p.Glu363Asp(p.E363D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000335606
Start	33989411:33989411(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.831G>T
AA Mutation	p.Glu277Asp(p.E277D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000335606
Start	33989150:33989150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1092T>C
Mutation Classification	Silent
Feature Type	Transcript