Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCD3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000370214
Start 94473827:94473827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.397A>G
AA Mutation p.Met133Val(p.M133V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000370214
Start 94475702:94475702(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.592A>G
AA Mutation p.Asn198Asp(p.N198D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000370214
Start 94464829:94464829(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769166618
CDS Mutation c.202A>G
AA Mutation p.Ile68Val(p.I68V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000370214
Start 94475694:94475694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.584A>C
AA Mutation p.Lys195Thr(p.K195T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000370214
Start 94489735:94489735(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757515840
CDS Mutation c.1168C>T
AA Mutation p.Arg390Trp(p.R390W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000370214
Start 94506606:94506606(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139094095
CDS Mutation c.1809C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000370214
Start 94480521:94480521(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.742C>T
AA Mutation p.Arg248Ter(p.R248*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> ABCD3

Mutation ID 1
Mutation Consequence synonymous_variant
Transcription ID ENST00000370214
Start 94483194:94483194(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.852G>A
Mutation Classification Silent
Feature Type Transcript