Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BHLHB9

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361229
Start	102749467:102749467(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747805882
CDS Mutation	c.472G>A
AA Mutation	p.Asp158Asn(p.D158N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361229
Start	102750081:102750081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758806487
CDS Mutation	c.1086C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361229
Start	102749304:102749304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.309T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361229
Start	102750349:102750349(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1354T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361229
Start	102750555:102750555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1560C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361229
Start	102749598:102749598(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.603T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000361229
Start	102749615:102749615(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.626delA
AA Mutation	p.Asn209IlefsTer9(p.N209Ifs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000361229
Start	102749039:102749039(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.50delA
AA Mutation	p.Lys17ArgfsTer21(p.K17Rfs*21)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> BHLHB9

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361229
Start	102750323:102750323(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1328C>G
AA Mutation	p.Ala443Gly(p.A443G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361229
Start	102749409:102749409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.414T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000361229
Start	102749937:102749937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.942C>A
AA Mutation	p.Cys314Ter(p.C314*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript