Tag
Urea Cycle
5 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs146582474 | SLC7A7 | Finnish founder splice acceptor mutation abolishing y+LAT1 transport activity... | Metabolic Enzymes & Rare Disorders | Established | |
| rs28933978 | OTC R141Q (Arg141Gln) | The most common OTC point mutation, abolishing ornithine transcarbamylase enz... | Metabolic Enzymes & Rare Disorders | Established | |
| 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 | |
| rs72552297 | OTC Asn10fs (c.29_32del) | Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylas... | Metabolic Enzymes & Rare Disorders | Established |