Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> UGT2B17

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000317746
Start	68550713:68550713(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1277T>C
AA Mutation	p.Leu426Ser(p.L426S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000317746
Start	68551888:68551888(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1029G>T
AA Mutation	p.Lys343Asn(p.K343N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000317746
Start	68568130:68568130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.355G>A
AA Mutation	p.Glu119Lys(p.E119K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000317746
Start	68568369:68568369(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.116T>C
AA Mutation	p.Met39Thr(p.M39T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000317746
Start	68565714:68565714(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.731C>G
AA Mutation	p.Pro244Arg(p.P244R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000317746
Start	68565580:68565580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143800988
CDS Mutation	c.865T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000317746
Start	68537666:68537666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs558443905
CDS Mutation	c.1552C>T
AA Mutation	p.Arg518Ter(p.R518*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> UGT2B17

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000317746
Start	68551901:68551901(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1016G>T
AA Mutation	p.Arg339Ile(p.R339I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000317746
Start	68537895:68537895(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1323G>T
AA Mutation	p.Glu441Asp(p.E441D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000317746
Start	68568049:68568049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.436T>C
AA Mutation	p.Phe146Leu(p.F146L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000317746
Start	68568391:68568391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373276207
CDS Mutation	c.94G>T
AA Mutation	p.Glu32Ter(p.E32*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript