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Mutation
Expression
Methylation
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Colon Cancer: Gene >> HLA-C
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31271265:31271265(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs72558147
CDS Mutation
c.427G>A
AA Mutation
p.Asp143Asn(p.D143N)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31271325:31271325(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs281860449
CDS Mutation
c.367T>C
AA Mutation
p.Ser123Pro(p.S123P)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31271223:31271223(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.469T>G
AA Mutation
p.Trp157Gly(p.W157G)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31270377:31270377(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.728G>T
AA Mutation
p.Arg243Leu(p.R243L)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31270431:31270431(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.674T>C
AA Mutation
p.Leu225Pro(p.L225P)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31270332:31270332(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs185215782
CDS Mutation
c.773G>T
AA Mutation
p.Arg258Met(p.R258M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31271705:31271705(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.237G>T
AA Mutation
p.Glu79Asp(p.E79D)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31271628:31271628(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.314T>G
AA Mutation
p.Leu105Arg(p.L105R)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
missense_variant;splice_region_variant
Transcription ID
ENST00000376228
Start
31271075:31271075(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs281860549
CDS Mutation
c.617C>T
AA Mutation
p.Ala206Val(p.A206V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31271772:31271772(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs281860353
CDS Mutation
c.170T>C
AA Mutation
p.Phe57Ser(p.F57S)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
missense_variant
Transcription ID
ENST00000376228
Start
31270279:31270279(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.826G>A
AA Mutation
p.Gly276Arg(p.G276R)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
12
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000376228
Start
31270299:31270300(version: GRCh38)
Mutation Type
INS
dbSNP_RS
null
CDS Mutation
c.805dupG
AA Mutation
p.Ala269GlyfsTer66(p.A269Gfs*66)
Mutation Classification
Frame_Shift_Ins
Feature Type
Transcript
Mutation ID
13
Mutation Consequence
splice_donor_variant
Transcription ID
ENST00000376228
Start
31271597:31271597(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.343+2T>C
Mutation Classification
Splice_Site
Feature Type
Transcript
Mutation ID
14
Mutation Consequence
splice_acceptor_variant
Transcription ID
ENST00000376228
Start
31269175:31269175(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1097-2A>G
Mutation Classification
Splice_Site
Feature Type
Transcript
Rectum Cancer: Gene >> HLA-C
No Mutation Annotation!