Primary Site >> Esophagus Cancer
Gene >> PTK2B
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000346049 |
| Start | 27450883:27450883(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2475G>T |
| AA Mutation | p.Glu825Asp(p.E825D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000346049 |
| Start | 27439131:27439131(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1744G>T |
| AA Mutation | p.Ala582Ser(p.A582S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000346049 |
| Start | 27433468:27433468(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1021G>T |
| AA Mutation | p.Ala341Ser(p.A341S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000346049 |
| Start | 27437421:27437421(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747495256 |
| CDS Mutation | c.1452G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | splice_acceptor_variant;coding_sequence_variant |
| Transcription ID | ENST00000346049 |
| Start | 27419893:27419895(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.205_207delGAG |
| AA Mutation | p.Glu69del(p.X69_splice) |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |