Tag
Urea Cycle
2 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs367543005 | ASL p.Gln354Ter (Q354X) | Nonsense mutation in argininosuccinate lyase introducing a premature stop cod... | Metabolic Enzymes & Rare Disorders | Established | |
| rs72552272 | SLC7A7 L334R | Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys... | Metabolic Enzymes & Rare Disorders | Established |