Gene >> HEY2
| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368364 |
| Start |
125759454:125759454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376521140
|
| CDS Mutation |
c.666C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368364 |
| Start |
125759549:125759549(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.762delC |
| AA Mutation |
p.Thr255ProfsTer92(p.T255Pfs*92) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |