Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CREBRF

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000296953
Start	173090723:173090723(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.544G>A
AA Mutation	p.Ala182Thr(p.A182T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000296953
Start	173090837:173090837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.658T>C
AA Mutation	p.Tyr220His(p.Y220H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000296953
Start	173108678:173108678(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1277G>A
AA Mutation	p.Arg426Gln(p.R426Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000296953
Start	173086544:173086544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.53G>A
AA Mutation	p.Arg18Gln(p.R18Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000296953
Start	173091005:173091005(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.831delA
AA Mutation	p.Met279TrpfsTer22(p.M279Wfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000296953
Start	173133656:173133656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1831G>T
AA Mutation	p.Glu611Ter(p.E611*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> CREBRF

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000296953
Start	173090651:173090651(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.472G>A
AA Mutation	p.Asp158Asn(p.D158N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000296953
Start	173110647:173110647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1543G>T
AA Mutation	p.Val515Phe(p.V515F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000296953
Start	173090387:173090387(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.208A>C
AA Mutation	p.Asn70His(p.N70H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript