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SLC22A12

solute carrier family 22 member 12

HCNC Approved Symbol
SLC22A12 (HGNC:17989)
Genomic Coordinates
11:64,591,220 - 64,602,344 (11q13.1)
Synonyms
OAT4L, RST, URAT1, hURAT1, UAT
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the SLC22A12 gene.

Frequently observed phenotypes

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

Hypouricemia
 8 (66.7%)
Proteinuria
 4 (33.3%)
Hyperuricosuria
 3 (25.0%)
Left ventricular hypertrophy
 2 (16.7%)
Pain
 2 (16.7%)
SLC22A12 - Gene browser | 3billion