SLC12A2 - Gene browser

SLC12A2

solute carrier family 12 member 2

HCNC Approved Symbol: SLC12A2 (HGNC:10911)
Genomic Coordinates: 5:128,083,766 - 128,189,677 (5q23.3)
Synonyms: NKCC1, BSC2, BSC-2, PPP1R141, CCC1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the SLC12A2 gene.

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

09
Patient count

Hearing loss: 5 (55.6%)
Patient Count: 5 (55.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (55.6%)
Asd: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Global developmental delay: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Dizziness: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Bilateral sensorineural hearing impairment: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)