SLC12A6 - Gene browser

SLC12A6

solute carrier family 12 member 6

HCNC Approved Symbol: SLC12A6 (HGNC:10914)
Genomic Coordinates: 15:34,229,784 - 34,338,057 (15q14)
Synonyms: KCC3A, KCC3B, KCC3, ACCPN
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the SLC12A6 gene.

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

05
Patient count

Muscle cramps: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Muscle degeneration: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Muscle weakness: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Spasticity: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Agenesis of corpus callosum: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)