Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MDH2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000315758
Start	76064390:76064390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.685C>T
AA Mutation	p.Arg229Trp(p.R229W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000315758
Start	76054932:76054932(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.169G>C
AA Mutation	p.Asp57His(p.D57H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000315758
Start	76057977:76057977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs782472423
CDS Mutation	c.328C>T
AA Mutation	p.Arg110Trp(p.R110W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000315758
Start	76066279:76066279(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.890delA
AA Mutation	p.Lys297ArgfsTer19(p.K297Rfs*19)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000315758
Start	76064343:76064343(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.642delC
AA Mutation	p.Lys215ArgfsTer9(p.K215Rfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> MDH2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000315758
Start	76057433:76057433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.259C>T
AA Mutation	p.Pro87Ser(p.P87S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000315758
Start	76066291:76066291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373091398
CDS Mutation	c.898G>A
AA Mutation	p.Glu300Lys(p.E300K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000315758
Start	76057418:76057418(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.244G>A
AA Mutation	p.Gly82Arg(p.G82R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000315758
Start	76060441:76060441(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.498C>A
Mutation Classification	Silent
Feature Type	Transcript