ASL Chromosome 7

Argininosuccinate lyase
233 variants 233 Health Risk

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What This Gene Does
This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Associated Conditions (11)
Argininosuccinate lyase deficiency
Inborn genetic diseases
ASL-related disorder
Familial cancer of breast
Congenital portosystemic shunt
Neurodevelopmental disorder
Autism
Malignant tumor of urinary bladder
Acute myeloid leukemia
Congenital myasthenic syndrome 4C
Sarcoma
Key Variants
RS1057141162
Conflicting classifications of pathogenicity
Health Risk
RS1085307952
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1211112295
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1301059768
Conflicting classifications of pathogenicity
Health Risk
RS1339615185
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1348290958
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1361999742
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS139410488
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1397223617
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1405344068
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Inborn genetic diseases, Argininosuccinate lyase deficiency
Health Risk
RS141046612
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS141584041
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
All Variants (233)
RSID Category Clinical Significance Conditions
RS1057141162 Health Risk Conflicting classifications of pathogenicity —
RS1085307952 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1211112295 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1301059768 Health Risk Conflicting classifications of pathogenicity —
RS1339615185 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1348290958 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1361999742 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS139410488 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1397223617 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1405344068 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Inborn genetic diseases, Argininosuccinate lyase deficiency
RS141046612 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS141584041 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS142077823 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, ASL-related disorder, Argininosuccinate lyase deficiency
RS143508372 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS144591360 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786669549 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS201352504 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115760128 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2484997376 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2485028603 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS368264870 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS368266194 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS370260834 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Inborn genetic diseases, Argininosuccinate lyase deficiency
RS375854730 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS398123126 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS398123128 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Inborn genetic diseases, Argininosuccinate lyase deficiency
RS542163407 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Familial cancer of breast, Argininosuccinate lyase deficiency
RS543255240 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS558890925 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS561367199 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS727503811 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS745476328 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS745502369 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Argininosuccinate lyase deficiency, Inborn genetic diseases
RS749559501 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS749788626 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS759952363 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS764072757 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS766867890 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS774204716 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS774392615 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS774703196 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS796051925 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312992 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS886062406 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Congenital portosystemic shunt, Argininosuccinate lyase deficiency
RS909358635 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS924321091 Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1263616535 Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1409068410 Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1449589636 Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1487170309 Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
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