Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PGAM5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000498926
Start 132717725:132717725(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.512G>A
AA Mutation p.Ser171Asn(p.S171N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000498926
Start 132717788:132717788(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.575C>T
AA Mutation p.Pro192Leu(p.P192L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000498926
Start 132717767:132717767(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.554C>T
AA Mutation p.Pro185Leu(p.P185L)
Mutation Classification Missense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> PGAM5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000498926
Start 132718113:132718113(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.712G>A
AA Mutation p.Val238Met(p.V238M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000498926
Start 132714953:132714953(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.287C>A
AA Mutation p.Ala96Asp(p.A96D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000498926
Start 132717771:132717771(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371236067
CDS Mutation c.558C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000498926
Start 132714924:132714924(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146099818
CDS Mutation c.258G>A
Mutation Classification Silent
Feature Type Transcript