Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ACTR2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000260641
Start	65268577:65268577(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1028G>A
AA Mutation	p.Arg343His(p.R343H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000260641
Start	65253793:65253793(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs17851188
CDS Mutation	c.514G>A
AA Mutation	p.Gly172Ser(p.G172S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260641
Start	65251035:65251035(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.384T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260641
Start	65255625:65255625(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146443867
CDS Mutation	c.666C>T
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> ACTR2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000260641
Start	65246603:65246603(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.239G>A
AA Mutation	p.Arg80Gln(p.R80Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000260641
Start	65268595:65268595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1046G>A
AA Mutation	p.Arg349His(p.R349H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000260641
Start	65239954:65239954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.151G>T
AA Mutation	p.Glu51Ter(p.E51*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000260641
Start	65265119:65265119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.958G>T
AA Mutation	p.Glu320Ter(p.E320*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript