SLC12A3 - Gene browser

SLC12A3

solute carrier family 12 member 3

HCNC Approved Symbol: SLC12A3 (HGNC:10912)
Genomic Coordinates: 16:56,865,207 - 56,915,850 (16q13)
Synonyms: NCCT, NCC, TSC
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

66Patients

In total, 66 patients were diagnosed with a variant in the SLC12A3 gene.

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

066
Patient count

Hypokalemia: 43 (65.2%)
Patient Count: 43 (65.2%)
% of total patients presenting each phenotype is shown in parentheses.
43 (65.2%)
Hypomagnesemia: 18 (27.3%)
Patient Count: 18 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
18 (27.3%)
Metabolic alkalosis: 7 (10.6%)
Patient Count: 7 (10.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (10.6%)
Hyperreninemia: 6 (9.1%)
Patient Count: 6 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
6 (9.1%)
Hypocalciuria: 5 (7.6%)
Patient Count: 5 (7.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (7.6%)