Primary Site >> Esophagus Cancer
Gene >> UBR5
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000520539 |
| Start | 102257685:102257685(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8134C>T |
| AA Mutation | p.Arg2712Cys(p.R2712C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000520539 |
| Start | 102261972:102261972(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7785C>G |
| AA Mutation | p.Phe2595Leu(p.F2595L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000520539 |
| Start | 102271221:102271221(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6998G>A |
| AA Mutation | p.Arg2333Gln(p.R2333Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000520539 |
| Start | 102259040:102259040(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs754064392 |
| CDS Mutation | c.8046C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000520539 |
| Start | 102277121:102277121(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs763652408 |
| CDS Mutation | c.6360delA |
| AA Mutation | p.Glu2121LysfsTer28(p.E2121Kfs*28) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000520539 |
| Start | 102296975:102296976(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.3582dupT |
| AA Mutation | p.Glu1195Ter(p.E1195*) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |