Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TPH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000250018
Start	18040753:18040753(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10G>T
AA Mutation	p.Asp4Tyr(p.D4Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000250018
Start	18021152:18021152(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1174A>G
AA Mutation	p.Thr392Ala(p.T392A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000250018
Start	18036116:18036116(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756245253
CDS Mutation	c.144C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000250018
Start	18029347:18029348(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.484_485insAATATTTAGAAAG
AA Mutation	p.Pro162GlnfsTer8(p.P162Qfs*8)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> TPH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000250018
Start	18026622:18026622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368665249
CDS Mutation	c.671G>A
AA Mutation	p.Arg224His(p.R224H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000250018
Start	18021142:18021142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs570648870
CDS Mutation	c.1184G>A
AA Mutation	p.Arg395His(p.R395H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000250018
Start	18040688:18040688(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.75G>T
AA Mutation	p.Lys25Asn(p.K25N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000250018
Start	18022859:18022859(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1099A>G
AA Mutation	p.Thr367Ala(p.T367A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript