rs104893717

This is a variant in the CASR gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters5 publications

Familial hypocalciuric hypercalcemia 1; Nephrolithiasis/nephrocalcinosis

About CASR

The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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