rs1040164729

This variant is located in the SLC34A3 gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters2 publications

not provided; Autosomal recessive hypophosphatemic bone disease

About SLC34A3

This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]

View all SLC34A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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