Gene >> HPSE2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370552 |
| Start |
98743954:98743954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138827531
|
| CDS Mutation |
c.713G>A |
| AA Mutation |
p.Ser238Asn(p.S238N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370552 |
| Start |
98743998:98743998(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.669delT |
| AA Mutation |
p.Phe223LeufsTer3(p.F223Lfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |