Primary Site >> Stomach Cancer
Gene >> ECH1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000221418 |
| Start | 38816481:38816481(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs771946669 |
| CDS Mutation | c.631C>T |
| AA Mutation | p.Arg211Cys(p.R211C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000221418 |
| Start | 38815957:38815957(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200226678 |
| CDS Mutation | c.782C>T |
| AA Mutation | p.Ala261Val(p.A261V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000221418 |
| Start | 38831430:38831430(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.139C>A |
| AA Mutation | p.Leu47Ile(p.L47I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000221418 |
| Start | 38831142:38831142(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.285G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000221418 |
| Start | 38815634:38815634(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs766818823 |
| CDS Mutation | c.966C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000221418 |
| Start | 38817569:38817572(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.353_356delTTGA |
| AA Mutation | p.Ile118ThrfsTer2(p.I118Tfs*2) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | splice_acceptor_variant;coding_sequence_variant |
| Transcription ID | ENST00000221418 |
| Start | 38816338:38816357(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.660-2_677delAGCCTGGTCAACGAGCTGGC |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |