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Mutation
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Colon Cancer: Gene >> SERPINB3
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000283752
Start
63655860:63655860(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs542903928
CDS Mutation
c.970G>A
AA Mutation
p.Val324Met(p.V324M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000283752
Start
63655681:63655681(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1149C>A
AA Mutation
p.Phe383Leu(p.F383L)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant;splice_region_variant
Transcription ID
ENST00000283752
Start
63660802:63660802(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.220C>A
AA Mutation
p.His74Asn(p.H74N)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000283752
Start
63655918:63655918(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs750555422
CDS Mutation
c.912G>T
AA Mutation
p.Met304Ile(p.M304I)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000283752
Start
63661184:63661184(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.33C>A
AA Mutation
p.Phe11Leu(p.F11L)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000283752
Start
63660807:63660807(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.215C>T
AA Mutation
p.Thr72Ile(p.T72I)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
missense_variant
Transcription ID
ENST00000283752
Start
63655964:63655964(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.866T>G
AA Mutation
p.Val289Gly(p.V289G)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000283752
Start
63661115:63661115(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.102C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000283752
Start
63656846:63656846(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs143869105
CDS Mutation
c.753C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000283752
Start
63655789:63655789(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs374190073
CDS Mutation
c.1041C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
stop_gained
Transcription ID
ENST00000283752
Start
63658552:63658552(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs774375543
CDS Mutation
c.430C>T
AA Mutation
p.Arg144Ter(p.R144*)
Mutation Classification
Nonsense_Mutation
Feature Type
Transcript
Mutation ID
12
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000283752
Start
63661203:63661204(version: GRCh38)
Mutation Type
INS
dbSNP_RS
novel
CDS Mutation
c.13_14insTGCTGAT
AA Mutation
p.Ser5MetfsTer4(p.S5Mfs*4)
Mutation Classification
Frame_Shift_Ins
Feature Type
Transcript
Rectum Cancer: Gene >> SERPINB3
No Mutation Annotation!