Primary Site >> Esophagus Cancer
Gene >> MDC1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000376406 |
| Start | 30708220:30708220(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs148637924 |
| CDS Mutation | c.2359G>A |
| AA Mutation | p.Gly787Arg(p.G787R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000376406 |
| Start | 30712254:30712254(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1688T>A |
| AA Mutation | p.Leu563His(p.L563H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000376406 |
| Start | 30704485:30704485(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4698G>C |
| AA Mutation | p.Lys1566Asn(p.K1566N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000376406 |
| Start | 30712071:30712071(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs746258696 |
| CDS Mutation | c.1871G>C |
| AA Mutation | p.Gly624Ala(p.G624A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000376406 |
| Start | 30712765:30712765(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1177A>G |
| AA Mutation | p.Lys393Glu(p.K393E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000376406 |
| Start | 30712278:30712278(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1664C>T |
| AA Mutation | p.Ala555Val(p.A555V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000376406 |
| Start | 30703810:30703810(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs557483176 |
| CDS Mutation | c.5373G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000376406 |
| Start | 30705893:30705898(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3285_3290delCTCAGA |
| AA Mutation | p.Ser1096_Glu1097del(p.S1096_E1097del) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |