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Mutation
Expression
Methylation
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Colon Cancer: Gene >> NADSYN1
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000319023
Start
71473640:71473640(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs137910047
CDS Mutation
c.620G>A
AA Mutation
p.Arg207His(p.R207H)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000319023
Start
71501347:71501347(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.2116G>A
AA Mutation
p.Asp706Asn(p.D706N)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000319023
Start
71482941:71482941(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1243A>G
AA Mutation
p.Thr415Ala(p.T415A)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000319023
Start
71453375:71453375(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.79T>G
AA Mutation
p.Leu27Val(p.L27V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000319023
Start
71458478:71458478(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs551641223
CDS Mutation
c.197C>T
AA Mutation
p.Ser66Leu(p.S66L)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000319023
Start
71482986:71482986(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs149234649
CDS Mutation
c.1288C>T
AA Mutation
p.Arg430Trp(p.R430W)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319023
Start
71481935:71481935(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1060C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000319023
Start
71478445:71478445(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs201214062
CDS Mutation
c.849G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000319023
Start
71473584:71473584(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
novel
CDS Mutation
c.566delG
AA Mutation
p.Gly189AlafsTer28(p.G189Afs*28)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
splice_donor_variant
Transcription ID
ENST00000319023
Start
71455172:71455172(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs775012676
CDS Mutation
c.146+2T>C
Mutation Classification
Splice_Site
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
splice_acceptor_variant
Transcription ID
ENST00000319023
Start
71491833:71491833(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1695-1G>A
Mutation Classification
Splice_Site
Feature Type
Transcript
Rectum Cancer: Gene >> NADSYN1
No Mutation Annotation!