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	Urea Cycle	Established
rs28933978	OTC R141Q (Arg141Gln)	The most common OTC point mutation, abolishing ornithine transcarbamylase enz...	Metabolic Enzymes & Rare Disorders	Urea Cycle	Established
rs367543005	ASL p.Gln354Ter (Q354X)	Nonsense mutation in argininosuccinate lyase introducing a premature stop cod...	Metabolic Enzymes & Rare Disorders	Urea Cycle	Established
rs72552272	SLC7A7 L334R	Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys...	Metabolic Enzymes & Rare Disorders	Urea Cycle	Established
rs72552297	OTC Asn10fs (c.29_32del)	Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylas...	Metabolic Enzymes & Rare Disorders	Urea Cycle	Established