Primary Site >> Esophagus Cancer
Gene >> BAX
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000345358 |
| Start | 48956208:48956208(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs760733803 |
| CDS Mutation | c.244G>A |
| AA Mutation | p.Ala82Thr(p.A82T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000345358 |
| Start | 48961605:48961605(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.548C>T |
| AA Mutation | p.Ala183Val(p.A183V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | inframe_insertion |
| Transcription ID | ENST00000345358 |
| Start | 48960884:48960885(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.444_445insAGCTACCACATCCAGCCTTTTTCTTTCTTTCTT |
| AA Mutation | p.Leu148_Leu149insSerTyrHisIleGlnProPheSerPhePheLeu(p.L148_L149insSYHIQPFSFFL) |
| Mutation Classification | In_Frame_Ins |
| Feature Type | Transcript |