Primary Site >> Liver Cancer
Gene >> SHANK2
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70486721:70486721(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2435C>T |
| AA Mutation | p.Ala812Val(p.A812V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70807019:70807019(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377433895 |
| CDS Mutation | c.509G>A |
| AA Mutation | p.Arg170His(p.R170H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70820529:70820529(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.191G>T |
| AA Mutation | p.Arg64Leu(p.R64L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70661653:70661653(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.742G>T |
| AA Mutation | p.Val248Leu(p.V248L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70502865:70502865(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.991A>T |
| AA Mutation | p.Asn331Tyr(p.N331Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70486596:70486596(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2560G>A |
| AA Mutation | p.Gly854Arg(p.G854R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000423696 |
| Start | 70487608:70487608(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1548C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000601538 |
| Start | 71118982:71118982(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.258G>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000423696 |
| Start | 70487605:70487605(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs141694314 |
| CDS Mutation | c.1551G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |