Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> UPB1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000326010
Start	24523702:24523702(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367569283
CDS Mutation	c.1000C>T
AA Mutation	p.Arg334Trp(p.R334W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000326010
Start	24510754:24510754(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.370C>T
AA Mutation	p.Pro124Ser(p.P124S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000326010
Start	24522019:24522019(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.907G>A
AA Mutation	p.Gly303Arg(p.G303R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326010
Start	24523743:24523743(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778898427
CDS Mutation	c.1041C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326010
Start	24500134:24500134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs9620392
CDS Mutation	c.132C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000326010
Start	24500245:24500245(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.247delC
AA Mutation	p.Leu83SerfsTer18(p.L83Sfs*18)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> UPB1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000326010
Start	24523679:24523679(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs118163237
CDS Mutation	c.977G>A
AA Mutation	p.Arg326Gln(p.R326Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000326010
Start	24515237:24515237(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143521220
CDS Mutation	c.658G>A
AA Mutation	p.Val220Met(p.V220M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000326010
Start	24523626:24523626(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.924G>T
AA Mutation	p.Gln308His(p.Q308H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000326010
Start	24500204:24500204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.202C>T
AA Mutation	p.Arg68Ter(p.R68*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript