Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> OPHN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355520
Start	68234585:68234585(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.388C>T
AA Mutation	p.Arg130Trp(p.R130W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000355520
Start	68212178:68212178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.632A>C
AA Mutation	p.Asn211Thr(p.N211T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000355520
Start	68213942:68213942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.517A>C
AA Mutation	p.Asn173His(p.N173H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355520
Start	68073264:68073264(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752918613
CDS Mutation	c.1722G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000355520
Start	68192920:68192920(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1275delT
AA Mutation	p.Phe425LeufsTer25(p.F425Lfs*25)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000355520
Start	68053746:68053747(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2222dupC
AA Mutation	p.Val742SerfsTer43(p.V742Sfs*43)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> OPHN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355520
Start	68201629:68201629(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1015A>G
AA Mutation	p.Thr339Ala(p.T339A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000355520
Start	68432869:68432869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.152G>T
AA Mutation	p.Arg51Ile(p.R51I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355520
Start	68073216:68073216(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760485744
CDS Mutation	c.1770G>A
Mutation Classification	Silent
Feature Type	Transcript