Gene >> NPC1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269228 |
| Start |
23545014:23545014(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1893G>A |
| AA Mutation |
p.Met631Ile(p.M631I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269228 |
| Start |
23536702:23536702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779463609
|
| CDS Mutation |
c.3216C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |