Gene >> CREB1
| ID |
1 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000432329 |
| Start |
207575370:207575383(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.648_661delGCCGGGTACTACCA |
| AA Mutation |
p.Gln216HisfsTer9(p.Q216Hfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000432329 |
| Start |
207597056:207597056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1024T>G |
| AA Mutation |
p.Ter342GluextTer4(p.*342Eext*4) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |