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Mutation
Expression
Methylation
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Colon Cancer: Gene >> KCNQ1
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000155840
Start
2585288:2585288(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs775362401
CDS Mutation
c.1109C>T
AA Mutation
p.Ala370Val(p.A370V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000155840
Start
2572056:2572056(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs199472713
CDS Mutation
c.727C>T
AA Mutation
p.Arg243Cys(p.R243C)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000155840
Start
2572924:2572924(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs765665086
CDS Mutation
c.859G>A
AA Mutation
p.Ala287Thr(p.A287T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000155840
Start
2572039:2572039(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.710G>T
AA Mutation
p.Arg237Met(p.R237M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000155840
Start
2572105:2572105(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs199472720
CDS Mutation
c.776G>A
AA Mutation
p.Arg259His(p.R259H)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000155840
Start
2776011:2776011(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1642G>T
AA Mutation
p.Gly548Cys(p.G548C)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000155840
Start
2570681:2570681(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs757713526
CDS Mutation
c.531C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000155840
Start
2775977:2775977(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs138551008
CDS Mutation
c.1608C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000155840
Start
2571392:2571392(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs550887954
CDS Mutation
c.672G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000155840
Start
2847802:2847802(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs774101297
CDS Mutation
c.1830C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000155840
Start
2587637:2587637(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
rs754934906
CDS Mutation
c.1201delC
AA Mutation
p.Arg401GlyfsTer18(p.R401Gfs*18)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Mutation ID
12
Mutation Consequence
stop_gained
Transcription ID
ENST00000155840
Start
2768881:2768881(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs17215500
CDS Mutation
c.1552C>T
AA Mutation
p.Arg518Ter(p.R518*)
Mutation Classification
Nonsense_Mutation
Feature Type
Transcript
Mutation ID
13
Mutation Consequence
inframe_deletion
Transcription ID
ENST00000155840
Start
2847931:2847945(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
novel
CDS Mutation
c.1967_1981delGCAACACCCTGCCCA
AA Mutation
p.Ser656_Pro660del(p.S656_P660del)
Mutation Classification
In_Frame_Del
Feature Type
Transcript
Rectum Cancer: Gene >> KCNQ1
No Mutation Annotation!