Gene >> ORM1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259396 |
| Start |
114323727:114323727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.179A>T |
| AA Mutation |
p.Gln60Leu(p.Q60L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000259396 |
| Start |
114324806:114324807(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.346_347delTT |
| AA Mutation |
p.Phe116ArgfsTer17(p.F116Rfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |