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Colon Cancer: Gene >> GEMIN4
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000319004
Start
745614:745614(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.2429G>A
AA Mutation
p.Gly810Glu(p.G810E)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000319004
Start
745279:745279(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.2764C>A
AA Mutation
p.Leu922Ile(p.L922I)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000319004
Start
745176:745176(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs369029997
CDS Mutation
c.2867C>T
AA Mutation
p.Ala956Val(p.A956V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000319004
Start
746403:746403(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1640C>T
AA Mutation
p.Ala547Val(p.A547V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000319004
Start
746398:746398(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs373624818
CDS Mutation
c.1645G>A
AA Mutation
p.Val549Met(p.V549M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000319004
Start
747931:747931(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs558697152
CDS Mutation
c.112G>A
AA Mutation
p.Asp38Asn(p.D38N)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
missense_variant
Transcription ID
ENST00000319004
Start
745885:745885(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.2158T>C
AA Mutation
p.Cys720Arg(p.C720R)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
missense_variant
Transcription ID
ENST00000319004
Start
746428:746428(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1615G>A
AA Mutation
p.Glu539Lys(p.E539K)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319004
Start
747629:747629(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.414T>C
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319004
Start
745616:745616(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs374917019
CDS Mutation
c.2427C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319004
Start
747134:747134(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.909C>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
12
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319004
Start
746096:746096(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs370625526
CDS Mutation
c.1947C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
13
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319004
Start
747326:747326(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs781267706
CDS Mutation
c.717G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
14
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319004
Start
746741:746741(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs756295903
CDS Mutation
c.1302G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
15
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319004
Start
747044:747044(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs763028232
CDS Mutation
c.999C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
16
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000319004
Start
747058:747058(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
null
CDS Mutation
c.985delG
AA Mutation
p.Glu329ArgfsTer24(p.E329Rfs*24)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Mutation ID
17
Mutation Consequence
stop_gained
Transcription ID
ENST00000319004
Start
747460:747460(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.583G>T
AA Mutation
p.Glu195Ter(p.E195*)
Mutation Classification
Nonsense_Mutation
Feature Type
Transcript
Mutation ID
18
Mutation Consequence
inframe_deletion
Transcription ID
ENST00000319004
Start
747742:747744(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
null
CDS Mutation
c.299_301delTGG
AA Mutation
p.Val100del(p.V100del)
Mutation Classification
In_Frame_Del
Feature Type
Transcript
Rectum Cancer: Gene >> GEMIN4
No Mutation Annotation!