SLC12A1 - Gene browser

SLC12A1

solute carrier family 12 member 1

HCNC Approved Symbol: SLC12A1 (HGNC:10910)
Genomic Coordinates: 15:48,206,302 - 48,304,078 (15q21.1)
Synonyms: NKCC2, CCC2, BSC1, BSC, BSC-1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the SLC12A1 gene.

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

011
Patient count

Hypokalemia: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Nephrocalcinosis: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Metabolic alkalosis: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Hypercalciuria: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Medullary nephrocalcinosis: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)