Gene >> PTCH1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331920 |
| Start |
95467353:95467353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2323C>A |
| AA Mutation |
p.Leu775Met(p.L775M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000331920 |
| Start |
95506511:95506511(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.290delA |
| AA Mutation |
p.Asn97ThrfsTer20(p.N97Tfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |