Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PFKFB1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54933825:54933825(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1352C>T
AA Mutation p.Pro451Leu(p.P451L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54945498:54945498(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771482577
CDS Mutation c.1039C>T
AA Mutation p.Pro347Ser(p.P347S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54933446:54933446(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1373G>A
AA Mutation p.Arg458Gln(p.R458Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54956197:54956197(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.594G>C
AA Mutation p.Glu198Asp(p.E198D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000375006
Start 54959828:54959828(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202099559
CDS Mutation c.383C>T
AA Mutation p.Ala128Val(p.A128V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54956161:54956161(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.630A>C
AA Mutation p.Glu210Asp(p.E210D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54963358:54963358(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150213595
CDS Mutation c.122C>T
AA Mutation p.Ser41Phe(p.S41F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000375006
Start 54951914:54951914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.837C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000375006
Start 54933439:54933439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1380T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000375006
Start 54949216:54949216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.852C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence stop_gained
Transcription ID ENST00000375006
Start 54958865:54958865(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764589093
CDS Mutation c.445G>T
AA Mutation p.Glu149Ter(p.E149*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000375006
Start 54963290:54963290(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372795411
CDS Mutation c.190C>T
AA Mutation p.Arg64Ter(p.R64*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> PFKFB1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54945462:54945462(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771700798
CDS Mutation c.1075C>T
AA Mutation p.Arg359Cys(p.R359C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54960913:54960913(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.228T>A
AA Mutation p.Phe76Leu(p.F76L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000375006
Start 54956204:54956204(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.587G>T
AA Mutation p.Arg196Ile(p.R196I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000375006
Start 54956242:54956243(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.548_549delAC
AA Mutation p.Asp183ValfsTer2(p.D183Vfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript