Primary Site >> Esophagus Cancer
Gene >> SOX9
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000245479 |
| Start | 72121798:72121798(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.407G>A |
| AA Mutation | p.Ser136Asn(p.S136N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000245479 |
| Start | 72122809:72122809(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.522C>A |
| AA Mutation | p.Tyr174Ter(p.Y174*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000245479 |
| Start | 72122736:72122783(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.454_501delCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAG |
| AA Mutation | p.Arg152_Lys167del(p.R152_K167del) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |