Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ARHGEF5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144363708:144363708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1039A>G
AA Mutation	p.Thr347Ala(p.T347A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144365334:144365334(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2665C>T
AA Mutation	p.Leu889Phe(p.L889F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144363750:144363750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1081G>A
AA Mutation	p.Asp361Asn(p.D361N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144365115:144365115(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2446A>G
AA Mutation	p.Thr816Ala(p.T816A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144379913:144379913(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs182264437
CDS Mutation	c.4651G>A
AA Mutation	p.Val1551Met(p.V1551M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144363894:144363894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751529421
CDS Mutation	c.1225G>A
AA Mutation	p.Ala409Thr(p.A409T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144365488:144365488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2819C>A
AA Mutation	p.Pro940His(p.P940H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144363666:144363666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.997C>T
AA Mutation	p.Pro333Ser(p.P333S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144371291:144371291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775008156
CDS Mutation	c.3662G>A
AA Mutation	p.Arg1221His(p.R1221H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144363815:144363815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1146G>T
AA Mutation	p.Trp382Cys(p.W382C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000056217
Start	144371307:144371307(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3678A>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000056217
Start	144365288:144365288(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774390347
CDS Mutation	c.2619G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000056217
Start	144365132:144365132(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2463G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000056217
Start	144363977:144363977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1308G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000056217
Start	144378781:144378781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4551C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000056217
Start	144371238:144371238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3609A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000056217
Start	144363329:144363329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.660G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000056217
Start	144364003:144364003(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1338delC
AA Mutation	p.Ala447GlnfsTer7(p.A447Qfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> ARHGEF5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144363106:144363106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.437A>G
AA Mutation	p.Glu146Gly(p.E146G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000056217
Start	144363872:144363872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1203G>T
AA Mutation	p.Glu401Asp(p.E401D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000056217
Start	144364070:144364070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1401C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000056217
Start	144378776:144378776(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4546C>T
AA Mutation	p.Gln1516Ter(p.Q1516*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript