Primary Site >> Esophagus Cancer
Gene >> SCN11A
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000302328 |
| Start | 38847092:38847092(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs564668486 |
| CDS Mutation | c.4978G>A |
| AA Mutation | p.Ala1660Thr(p.A1660T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000302328 |
| Start | 38910107:38910107(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs753507140 |
| CDS Mutation | c.1060C>T |
| AA Mutation | p.Arg354Trp(p.R354W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000302328 |
| Start | 38846961:38846961(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5109G>T |
| AA Mutation | p.Met1703Ile(p.M1703I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000302328 |
| Start | 38883301:38883301(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3151C>A |
| AA Mutation | p.Gln1051Lys(p.Q1051K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000302328 |
| Start | 38921209:38921209(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.759G>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000302328 |
| Start | 38907950:38907950(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs765136101 |
| CDS Mutation | c.1472delA |
| AA Mutation | p.Lys491SerfsTer5(p.K491Sfs*5) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |