Gene >> NGLY1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280700 |
| Start |
25729160:25729160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1584C>A |
| AA Mutation |
p.Phe528Leu(p.F528L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280700 |
| Start |
25719509:25719509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1916A>G |
| AA Mutation |
p.Asp639Gly(p.D639G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |