Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ITM2C

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000326427
Start 230877475:230877475(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.637G>A
AA Mutation p.Ala213Thr(p.A213T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000326427
Start 230878046:230878046(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200266468
CDS Mutation c.751C>T
AA Mutation p.Arg251Cys(p.R251C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000326427
Start 230875741:230875741(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760386716
CDS Mutation c.383G>A
AA Mutation p.Arg128His(p.R128H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000326427
Start 230875757:230875757(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.399G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000326427
Start 230873448:230873448(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.158delG
AA Mutation p.Gly53AlafsTer66(p.G53Afs*66)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> ITM2C

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000326427
Start 230877533:230877533(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143044408
CDS Mutation c.695G>A
AA Mutation p.Arg232His(p.R232H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000326427
Start 230873513:230873513(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769890271
CDS Mutation c.217G>A
AA Mutation p.Val73Met(p.V73M)
Mutation Classification Missense_Mutation
Feature Type Transcript