Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RNF130

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000521389
Start	180013072:180013072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.682G>A
AA Mutation	p.Asp228Asn(p.D228N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000521389
Start	180040610:180040610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.285C>A
AA Mutation	p.Phe95Leu(p.F95L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000521389
Start	179980200:179980200(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.694C>T
AA Mutation	p.Arg232Cys(p.R232C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000521389
Start	180013133:180013133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748504250
CDS Mutation	c.621T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000521389
Start	180040587:180040590(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.305_308delAACA
AA Mutation	p.Lys102SerfsTer28(p.K102Sfs*28)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> RNF130

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000521389
Start	179978233:179978233(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.818A>T
AA Mutation	p.Gln273Leu(p.Q273L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000521389
Start	179955668:179955668(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1246G>T
AA Mutation	p.Val416Leu(p.V416L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000521389
Start	179978271:179978271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145652271
CDS Mutation	c.780C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000521389
Start	179980173:179980173(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.721delG
AA Mutation	p.Ala241ProfsTer5(p.A241Pfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript