Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BHMT2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000255192
Start	79088513:79088513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1031A>G
AA Mutation	p.Glu344Gly(p.E344G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000255192
Start	79082919:79082919(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.561A>G
AA Mutation	p.Ile187Met(p.I187M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000255192
Start	79083694:79083694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.848G>A
AA Mutation	p.Gly283Glu(p.G283E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000255192
Start	79083682:79083682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.836C>A
AA Mutation	p.Ala279Asp(p.A279D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000255192
Start	79083674:79083674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.828C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000255192
Start	79080759:79080759(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.336delG
AA Mutation	p.Ile113SerfsTer24(p.I113Sfs*24)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000255192
Start	79080825:79080825(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374028274
CDS Mutation	c.397C>T
AA Mutation	p.Arg133Ter(p.R133*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> BHMT2

Mutation ID	1
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000255192
Start	79080719:79080719(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768662220
CDS Mutation	c.291C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	stop_gained
Transcription ID	ENST00000255192
Start	79080825:79080825(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374028274
CDS Mutation	c.397C>T
AA Mutation	p.Arg133Ter(p.R133*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000255192
Start	79082929:79082929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.571G>T
AA Mutation	p.Glu191Ter(p.E191*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript