Primary Site >> Esophagus Cancer
Gene >> ITGB4
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000200181 |
| Start | 75730251:75730251(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.749G>C |
| AA Mutation | p.Gly250Ala(p.G250A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000200181 |
| Start | 75740424:75740424(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs760130077 |
| CDS Mutation | c.2513G>A |
| AA Mutation | p.Arg838Gln(p.R838Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | stop_gained;splice_region_variant |
| Transcription ID | ENST00000200181 |
| Start | 75736053:75736053(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912462 |
| CDS Mutation | c.1660C>T |
| AA Mutation | p.Arg554Ter(p.R554*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000200181 |
| Start | 75733565:75733573(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1530_1538delGCCGTGCTC |
| AA Mutation | p.Lys510_Ser513delinsAsn(p.K510_S513delinsN) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |