Primary Site >> Esophagus Cancer
Gene >> CACNA2D3
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000288197 |
| Start | 54764289:54764289(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs762550479 |
| CDS Mutation | c.1318C>T |
| AA Mutation | p.Arg440Trp(p.R440W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000288197 |
| Start | 54896753:54896753(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2251T>G |
| AA Mutation | p.Phe751Val(p.F751V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000288197 |
| Start | 54968489:54968489(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2489A>C |
| AA Mutation | p.Lys830Thr(p.K830T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000288197 |
| Start | 55018317:55018317(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs749815729 |
| CDS Mutation | c.2987A>C |
| AA Mutation | p.Lys996Thr(p.K996T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000288197 |
| Start | 54764219:54764220(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1254dupT |
| AA Mutation | p.Thr419TyrfsTer8(p.T419Yfs*8) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |