Primary Site >> Esophagus Cancer
Gene >> NF1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358273 |
| Start | 31232812:31232812(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3427C>T |
| AA Mutation | p.His1143Tyr(p.H1143Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358273 |
| Start | 31326231:31326231(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5247A>T |
| AA Mutation | p.Lys1749Asn(p.K1749N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358273 |
| Start | 31343022:31343022(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7076T>C |
| AA Mutation | p.Val2359Ala(p.V2359A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358273 |
| Start | 31219074:31219074(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1597G>A |
| AA Mutation | p.Val533Ile(p.V533I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358273 |
| Start | 31227285:31227285(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2319C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000358273 |
| Start | 31200443:31200443(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs786203950 |
| CDS Mutation | c.910C>T |
| AA Mutation | p.Arg304Ter(p.R304*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |