Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TERF1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000276603
Start	73046061:73046061(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749879752
CDS Mutation	c.1244G>A
AA Mutation	p.Arg415Gln(p.R415Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000276603
Start	73030356:73030356(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs533827129
CDS Mutation	c.908C>T
AA Mutation	p.Ala303Val(p.A303V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000276603
Start	73046003:73046003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1186A>G
AA Mutation	p.Arg396Gly(p.R396G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000276603
Start	73024868:73024868(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.671T>G
AA Mutation	p.Phe224Cys(p.F224C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000276603
Start	73024869:73024869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.672T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000276603
Start	73009141:73009144(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs748891923
CDS Mutation	c.256_259delCTTT
AA Mutation	p.Leu86AlafsTer29(p.L86Afs*29)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> TERF1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000276603
Start	73009120:73009120(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.234G>A
AA Mutation	p.Met78Ile(p.M78I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000276603
Start	73020792:73020792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.524T>C
AA Mutation	p.Leu175Ser(p.L175S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000276603
Start	73032094:73032094(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1000G>A
AA Mutation	p.Asp334Asn(p.D334N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript