Primary Site >> Esophagus Cancer
Gene >> FBN2
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128345413:128345413(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs753760095 |
| CDS Mutation | c.3161G>A |
| AA Mutation | p.Arg1054His(p.R1054H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128537488:128537488(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs753160272 |
| CDS Mutation | c.116G>A |
| AA Mutation | p.Arg39Gln(p.R39Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128278692:128278692(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7288A>G |
| AA Mutation | p.Thr2430Ala(p.T2430A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128530606:128530606(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.425G>A |
| AA Mutation | p.Gly142Glu(p.G142E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128276074:128276074(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7558G>A |
| AA Mutation | p.Gly2520Arg(p.G2520R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128272109:128272109(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7850A>G |
| AA Mutation | p.Glu2617Gly(p.E2617G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128537522:128537522(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.82G>A |
| AA Mutation | p.Gly28Ser(p.G28S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128278698:128278698(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7282C>T |
| AA Mutation | p.Pro2428Ser(p.P2428S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000262464 |
| Start | 128309320:128309320(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5280G>T |
| AA Mutation | p.Arg1760Ser(p.R1760S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000262464 |
| Start | 128259605:128259605(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8589C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000262464 |
| Start | 128303013:128303013(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs528504682 |
| CDS Mutation | c.5877C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000262464 |
| Start | 128318922:128318922(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs144018137 |
| CDS Mutation | c.4551C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000262464 |
| Start | 128393262:128393262(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1338C>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000262464 |
| Start | 128338985:128338985(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs756541654 |
| CDS Mutation | c.3420C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000262464 |
| Start | 128311384:128311384(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4990G>T |
| AA Mutation | p.Gly1664Ter(p.G1664*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |