Primary Site >> Pancreatic Cancer
Gene >> ABCA1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000374736 |
| Start | 104785407:104785407(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6634A>G |
| AA Mutation | p.Thr2212Ala(p.T2212A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000374736 |
| Start | 104826949:104826949(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761275146 |
| CDS Mutation | c.2336C>T |
| AA Mutation | p.Ala779Val(p.A779V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000374736 |
| Start | 104829017:104829017(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs759576379 |
| CDS Mutation | c.2014C>T |
| AA Mutation | p.Arg672Trp(p.R672W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000374736 |
| Start | 104784405:104784405(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6696C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000374736 |
| Start | 104828985:104829001(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.2030_2046delACAACAGCATCCTCTGG |
| AA Mutation | p.Asp677ValfsTer2(p.D677Vfs*2) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000374736 |
| Start | 104858563:104858563(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.679C>T |
| AA Mutation | p.Arg227Ter(p.R227*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |