ASS1 - Gene browser

ASS1

argininosuccinate synthase 1

HCNC Approved Symbol: ASS1 (HGNC:758)
Genomic Coordinates: 9:130,444,707 - 130,501,274 (9q34.11)
Synonyms: CTLN1, ASS
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

24Patients

In total, 24 patients were diagnosed with a variant in the ASS1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

024
Patient count

Elevated plasma citrulline: 21 (87.5%)
Patient Count: 21 (87.5%)
% of total patients presenting each phenotype is shown in parentheses.
21 (87.5%)
Hyperammonemia: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Seizures: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Intellectual disability: 4 (16.7%)
Patient Count: 4 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.7%)
Brain atrophy: 3 (12.5%)
Patient Count: 3 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.5%)