rs1166594357

This variant is located in the SLC34A1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

Inborn genetic diseases; Hypercalcemia, infantile, 2;Fanconi renotubular syndrome 2;Hypophosphatemic nephrolithiasis/osteoporosis 1; SLC34A1-related disorder

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About SLC34A1

Enables sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; response to cadmium ion; and response to lead ion. Located in several cellular components, including apical plasma membrane; mitotic spindle; and nuclear speck. Implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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