Gene >> SPG21
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000204566 |
| Start |
64974732:64974732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587777315
|
| CDS Mutation |
c.322G>A |
| AA Mutation |
p.Ala108Thr(p.A108T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000204566 |
| Start |
64974685:64974685(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.369C>A |
| AA Mutation |
p.His123Gln(p.H123Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |