Primary Site >> Esophagus Cancer
Gene >> KRT8
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000293308 |
| Start | 52898497:52898497(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1225A>T |
| AA Mutation | p.Met409Leu(p.M409L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000293308 |
| Start | 52899998:52899998(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.758C>G |
| AA Mutation | p.Ser253Cys(p.S253C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000293308 |
| Start | 52901180:52901180(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs202170959 |
| CDS Mutation | c.573C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | stop_gained;inframe_insertion |
| Transcription ID | ENST00000293308 |
| Start | 52899996:52899997(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.759_760insAAAACACATATCTGATAAGAA |
| AA Mutation | p.Ser253_Leu254insLysThrHisIleTerTerGlu(p.S253_L254insKTHI**E) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000293308 |
| Start | 52899991:52899992(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.764_765insAAATCTAAATAAAGAACAGAGG |
| AA Mutation | p.Asp255GlufsTer15(p.D255Efs*15) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |