Primary Site >> Esophagus Cancer
Gene >> SCN5A
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38551459:38551459(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs374557801 |
| CDS Mutation | c.4913G>A |
| AA Mutation | p.Arg1638Gln(p.R1638Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38562431:38562431(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs765907469 |
| CDS Mutation | c.3947G>A |
| AA Mutation | p.Arg1316Gln(p.R1316Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38550412:38550412(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5960A>G |
| AA Mutation | p.Asn1987Ser(p.N1987S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38551477:38551477(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs199473286 |
| CDS Mutation | c.4895G>A |
| AA Mutation | p.Arg1632His(p.R1632H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38609899:38609899(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.769A>C |
| AA Mutation | p.Thr257Pro(p.T257P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38609818:38609818(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.850T>G |
| AA Mutation | p.Phe284Val(p.F284V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38550739:38550739(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5633A>C |
| AA Mutation | p.Lys1878Thr(p.K1878T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38603864:38603864(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1738A>C |
| AA Mutation | p.Thr580Pro(p.T580P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38550506:38550506(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5866T>G |
| AA Mutation | p.Phe1956Val(p.F1956V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38605964:38605964(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1325A>T |
| AA Mutation | p.Lys442Met(p.K442M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000333535 |
| Start | 38562478:38562478(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3900G>C |
| AA Mutation | p.Lys1300Asn(p.K1300N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000333535 |
| Start | 38551044:38551044(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5328C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000333535 |
| Start | 38581216:38581216(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2943C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |