Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RBM5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000347869
Start	50110754:50110754(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1439A>G
AA Mutation	p.Tyr480Cys(p.Y480C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000347869
Start	50093871:50093871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.335G>A
AA Mutation	p.Ser112Asn(p.S112N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000347869
Start	50108125:50108125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1097A>G
AA Mutation	p.Asp366Gly(p.D366G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000347869
Start	50093804:50093804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.268G>A
AA Mutation	p.Asp90Asn(p.D90N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347869
Start	50104286:50104286(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.606C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000347869
Start	50113493:50113493(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1569delA
AA Mutation	p.Glu524ArgfsTer28(p.E524Rfs*28)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> RBM5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000347869
Start	50110433:50110433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1333C>T
AA Mutation	p.Pro445Ser(p.P445S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000347869
Start	50118340:50118340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768916982
CDS Mutation	c.2332C>T
AA Mutation	p.Arg778Trp(p.R778W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000347869
Start	50113998:50113998(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1666G>T
AA Mutation	p.Glu556Ter(p.E556*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000347869
Start	50115473:50115473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1885G>T
AA Mutation	p.Glu629Ter(p.E629*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript