SLC7A9 - Gene browser

SLC7A9

solute carrier family 7 member 9

HCNC Approved Symbol: SLC7A9 (HGNC:11067)
Genomic Coordinates: 19:32,830,511 - 32,869,767 (19q13.11)
Synonyms: BAT1, CSNU3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the SLC7A9 gene.

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

05
Patient count

Cystinuria: 5 (100.0%)
Patient Count: 5 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
5 (100.0%)
Developmental delay: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Encephalopathy: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Hypercystinemia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Seizures: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)