Primary Site >> Pancreatic Cancer
Gene >> PKHD1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000371117 |
| Start | 51753215:51753215(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761651295 |
| CDS Mutation | c.8936G>A |
| AA Mutation | p.Arg2979Gln(p.R2979Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000371117 |
| Start | 52079997:52079997(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.293C>T |
| AA Mutation | p.Ser98Phe(p.S98F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000371117 |
| Start | 51906317:51906317(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6706G>A |
| AA Mutation | p.Val2236Met(p.V2236M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000371117 |
| Start | 52035718:52035718(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3101G>T |
| AA Mutation | p.Gly1034Val(p.G1034V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000371117 |
| Start | 52079975:52079975(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.315C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000371117 |
| Start | 51753213:51753213(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8938G>T |
| AA Mutation | p.Glu2980Ter(p.E2980*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000371117 |
| Start | 52056697:52056697(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1693+1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |