Gene >> HPGD
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296522 |
| Start |
174518033:174518033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.262T>A |
| AA Mutation |
p.Leu88Met(p.L88M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296522 |
| Start |
174493225:174493225(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.588delA |
| AA Mutation |
p.Glu197LysfsTer8(p.E197Kfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |