Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CYP19A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000260433
Start	51242850:51242850(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.63G>A
AA Mutation	p.Met21Ile(p.M21I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000260433
Start	51222367:51222367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.610T>G
AA Mutation	p.Leu204Val(p.L204V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000260433
Start	51210894:51210894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs577716822
CDS Mutation	c.1426G>A
AA Mutation	p.Asp476Asn(p.D476N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000260433
Start	51236898:51236898(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749988131
CDS Mutation	c.257G>A
AA Mutation	p.Arg86Gln(p.R86Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260433
Start	51242811:51242811(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.102T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000260433
Start	51210903:51210903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1417A>T
AA Mutation	p.Lys473Ter(p.K473*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000260433
Start	51210837:51210837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1483A>T
AA Mutation	p.Arg495Ter(p.R495*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> CYP19A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000260433
Start	51218634:51218634(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.650T>C
AA Mutation	p.Ile217Thr(p.I217T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000260433
Start	51211043:51211043(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1277A>G
AA Mutation	p.Tyr426Cys(p.Y426C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000260433
Start	51212330:51212330(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1253T>G
AA Mutation	p.Phe418Cys(p.F418C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000260433
Start	51222502:51222502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201842322
CDS Mutation	c.475C>T
AA Mutation	p.Arg159Cys(p.R159C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript