Primary Site >> Esophagus Cancer
Gene >> GABRA2
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000356504 |
| Start | 46312652:46312652(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.320C>G |
| AA Mutation | p.Pro107Arg(p.P107R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000356504 |
| Start | 46312622:46312622(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.350T>C |
| AA Mutation | p.Met117Thr(p.M117T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000356504 |
| Start | 46250473:46250473(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1191C>A |
| AA Mutation | p.Asn397Lys(p.N397K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000356504 |
| Start | 46250336:46250336(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200987678 |
| CDS Mutation | c.1328G>A |
| AA Mutation | p.Arg443Lys(p.R443K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000356504 |
| Start | 46250410:46250410(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1254C>G |
| AA Mutation | p.Asp418Glu(p.D418E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000356504 |
| Start | 46250531:46250531(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1133T>C |
| AA Mutation | p.Leu378Pro(p.L378P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000356504 |
| Start | 46250344:46250344(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1320T>G |
| AA Mutation | p.Tyr440Ter(p.Y440*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |