Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MAMSTR

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000318083
Start	48715698:48715698(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.167C>T
AA Mutation	p.Ala56Val(p.A56V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000318083
Start	48715708:48715708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.157T>G
AA Mutation	p.Ser53Ala(p.S53A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000318083
Start	48715378:48715378(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.309C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000318083
Start	48713495:48713495(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1020delC
AA Mutation	p.Ser341ProfsTer39(p.S341Pfs*39)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000318083
Start	48714848:48714849(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs765520198
CDS Mutation	c.485dupC
AA Mutation	p.His163ThrfsTer9(p.H163Tfs*9)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	start_lost
Transcription ID	ENST00000318083
Start	48719029:48719029(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3G>T
AA Mutation	p.Met1?(p.M1?)
Mutation Classification	Translation_Start_Site
Feature Type	Transcript

Rectum Cancer: Gene >> MAMSTR

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000318083
Start	48714905:48714905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.429G>T
AA Mutation	p.Met143Ile(p.M143I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000318083
Start	48713954:48713954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.815C>G
AA Mutation	p.Pro272Arg(p.P272R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000318083
Start	48715418:48715418(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.269G>T
AA Mutation	p.Arg90Met(p.R90M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript