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Mutation
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Methylation
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Colon Cancer: Gene >> SPG7
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89524138:89524138(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.509T>C
AA Mutation
p.Phe170Ser(p.F170S)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89512954:89512954(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.293C>T
AA Mutation
p.Thr98Ile(p.T98I)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89553006:89553006(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs370852816
CDS Mutation
c.1807G>A
AA Mutation
p.Ala603Thr(p.A603T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89532483:89532483(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1171C>T
AA Mutation
p.Arg391Trp(p.R391W)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89550601:89550601(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs199804717
CDS Mutation
c.1771G>A
AA Mutation
p.Val591Met(p.V591M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89556998:89556998(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs374941242
CDS Mutation
c.2293G>A
AA Mutation
p.Asp765Asn(p.D765N)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
missense_variant;splice_region_variant
Transcription ID
ENST00000268704
Start
89526329:89526329(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs199751531
CDS Mutation
c.619C>T
AA Mutation
p.Arg207Trp(p.R207W)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
missense_variant;splice_region_variant
Transcription ID
ENST00000268704
Start
89529479:89529479(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.761C>T
AA Mutation
p.Ala254Val(p.A254V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89553839:89553839(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1982T>C
AA Mutation
p.Met661Thr(p.M661T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
missense_variant;splice_region_variant
Transcription ID
ENST00000268704
Start
89548005:89548005(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1555G>A
AA Mutation
p.Ala519Thr(p.A519T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89532582:89532582(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1270T>A
AA Mutation
p.Phe424Ile(p.F424I)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
12
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89556983:89556983(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.2278C>T
AA Mutation
p.Pro760Ser(p.P760S)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
13
Mutation Consequence
missense_variant
Transcription ID
ENST00000268704
Start
89530758:89530758(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.937G>A
AA Mutation
p.Gly313Arg(p.G313R)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
14
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000268704
Start
89556916:89556916(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.2211G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
15
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000268704
Start
89550564:89550564(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs773595424
CDS Mutation
c.1734C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
16
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000268704
Start
89544682:89544682(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs115448299
CDS Mutation
c.1359G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
17
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000268704
Start
89531963:89531963(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
rs764134543
CDS Mutation
c.1053delC
AA Mutation
p.Gly352AlafsTer87(p.G352Afs*87)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Rectum Cancer: Gene >> SPG7
No Mutation Annotation!