Gene >> LAMP3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265598 |
| Start |
183154208:183154208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs114675283
|
| CDS Mutation |
c.233C>T |
| AA Mutation |
p.Ala78Val(p.A78V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265598 |
| Start |
183153786:183153786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.655C>T |
| AA Mutation |
p.Gln219Ter(p.Q219*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |