Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PSMC6

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000606149
Start	52718343:52718343(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.706G>T
AA Mutation	p.Asp236Tyr(p.D236Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000606149
Start	52718998:52718998(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.737G>A
AA Mutation	p.Gly246Asp(p.G246D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000606149
Start	52708809:52708809(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.251G>A
AA Mutation	p.Arg84His(p.R84H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000606149
Start	52720955:52720955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.872G>A
AA Mutation	p.Arg291His(p.R291H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000606149
Start	52727507:52727507(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1060G>A
AA Mutation	p.Ala354Thr(p.A354T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000606149
Start	52718088:52718088(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.541delA
AA Mutation	p.Thr181HisfsTer16(p.T181Hfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000606149
Start	52708326:52708326(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.103G>T
AA Mutation	p.Glu35Ter(p.E35*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PSMC6

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000606149
Start	52727522:52727522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1075C>A
AA Mutation	p.His359Asn(p.H359N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000606149
Start	52708376:52708376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.153G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000606149
Start	52719029:52719029(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769310892
CDS Mutation	c.768G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000606149
Start	52718286:52718286(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.649G>T
AA Mutation	p.Glu217Ter(p.E217*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript