Primary Site >> Stomach Cancer
Gene >> ELANE
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263621 |
| Start | 856072:856072(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.712T>C |
| AA Mutation | p.Phe238Leu(p.F238L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263621 |
| Start | 855757:855757(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.560G>A |
| AA Mutation | p.Cys187Tyr(p.C187Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263621 |
| Start | 853309:853309(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.272G>A |
| AA Mutation | p.Arg91Gln(p.R91Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263621 |
| Start | 853270:853270(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs569608929 |
| CDS Mutation | c.233G>A |
| AA Mutation | p.Arg78His(p.R78H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263621 |
| Start | 852345:852345(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.17G>A |
| AA Mutation | p.Arg6Gln(p.R6Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000263621 |
| Start | 855752:855752(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs765055351 |
| CDS Mutation | c.555C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000263621 |
| Start | 852928:852928(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.120G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000263621 |
| Start | 855593:855593(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs144441259 |
| CDS Mutation | c.396C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000263621 |
| Start | 855771:855778(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.581_588delAGGCCGGC |
| AA Mutation | p.Gln194ArgfsTer93(p.Q194Rfs*93) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |