SLC34A1 - Gene browser

SLC34A1

solute carrier family 34 member 1

HCNC Approved Symbol: SLC34A1 (HGNC:11019)
Genomic Coordinates: 5:177,384,434 - 177,398,848 (5q35.3)
Synonyms: NAPI-3, NPTIIa, SLC11, NPT2, SLC17A2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the SLC34A1 gene.

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

06
Patient count

Nephrocalcinosis: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Medullary nephrocalcinosis: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Hypercalciuria: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Myopia: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Nephrolithiasis: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)