Primary Site >> Liver Cancer
Gene >> PGS1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262764 |
| Start | 78403859:78403859(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1172T>C |
| AA Mutation | p.Leu391Pro(p.L391P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000262764 |
| Start | 78415009:78415009(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1533G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000262764 |
| Start | 78399419:78399419(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.585delT |
| AA Mutation | p.His196ThrfsTer37(p.H196Tfs*37) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID | ENST00000262764 |
| Start | 78378795:78378813(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.130_143+5delCGCCAGCGCAGGAGGTGAG |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |