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Gene entry

CASR

calcium sensing receptor

Chromosome
3
Cytoband
3q13.33-q21.1
Variants (rsID)
60

CASR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q13.33-q21.1). Its official name is “calcium sensing receptor”. The reference table lists 60 variants (rsID) for this gene.

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Clinically classified variants

41 reference-table entries with clinical significance.

  • rs1042636Benignsingle nucleotide variantAutosomal dominant hypocalcemia 1|Neonatal severe primary hyperparathyroidism|Familial hypoparathyroidism|Familial hypocalciuric hypercalcemia 1|Inborn genetic diseases|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs117375173Benignsingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Familial hypoparathyroidism|Familial hypocalciuric hypercalcemia 1|Autosomal dominant hypocalcemia 1|Neonatal severe primary hyperparathyroidism|Inborn genetic diseases
  • rs1801725Benignsingle nucleotide variantSerum calcium level|Familial hypocalciuric hypercalcemia 1|Familial hypoparathyroidism|Neonatal severe primary hyperparathyroidism|Autosomal dominant hypocalcemia 1|Inborn genetic diseases|Malignant tumor of breast|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs1802757Benignsingle nucleotide variantFamilial hypoparathyroidism|Autosomal dominant hypocalcemia 1|Neonatal severe primary hyperparathyroidism|Familial hypocalciuric hypercalcemia 1
  • rs115230894Conflicting interpretationssingle nucleotide variantAutosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia 1|Familial hypoparathyroidism|Neonatal severe primary hyperparathyroidism|Inborn genetic diseases|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Epilepsy, idiopathic generalized, susceptibility to, 8|Hereditary cancer-predisposing syndrome
  • rs142704083Conflicting interpretationssingle nucleotide variantFamilial hypocalciuric hypercalcemia 1|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia|Inborn genetic diseases
  • rs150869744Conflicting interpretationssingle nucleotide variantFamilial hypoparathyroidism|Familial hypocalciuric hypercalcemia 1|Neonatal severe primary hyperparathyroidism|Autosomal dominant hypocalcemia 1|Inborn genetic diseases|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Hereditary cancer-predisposing syndrome
  • rs193922419Conflicting interpretationssingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia
  • rs193922421Conflicting interpretationssingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia
  • rs193922432Conflicting interpretationssingle nucleotide variantNeonatal severe primary hyperparathyroidism|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia 1
  • rs193922433Conflicting interpretationssingle nucleotide variantFamilial hypocalciuric hypercalcemia|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs193922439Conflicting interpretationssingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia
  • rs199884115Conflicting interpretationssingle nucleotide variantNeonatal severe primary hyperparathyroidism|Autosomal dominant hypocalcemia 1|Familial hypoparathyroidism|Familial hypocalciuric hypercalcemia 1|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia
  • rs201177696Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia|Hereditary cancer-predisposing syndrome
  • rs186279271Likely benignsingle nucleotide variantAutosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia
  • rs104893716Likely pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia 1|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs193922422Likely pathogenicDeletionFamilial hypocalciuric hypercalcemia
  • rs193922426Likely pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia
  • rs193922429Likely pathogenicDeletionFamilial hypocalciuric hypercalcemia
  • rs193922430Likely pathogenicsingle nucleotide variantFamilial hypoparathyroidism
  • rs193922431Likely pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia
  • rs193922435Likely pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia
  • rs193922436Likely pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia
  • rs193922437Likely pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia
  • rs193922442Likely pathogenicDeletionFamilial hypocalciuric hypercalcemia
  • rs193922444Likely pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia
  • rs104893690Pathogenicsingle nucleotide variantNeonatal severe primary hyperparathyroidism|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs104893705Pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia 1|Neonatal severe primary hyperparathyroidism|Inborn genetic diseases
  • rs104893712Pathogenicsingle nucleotide variantAutosomal dominant hypocalcemia 1|Autosomal dominant hypocalcemia|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs121909260Pathogenicsingle nucleotide variantAutosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs193922423Pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia
  • rs193922424PathogenicDeletionFamilial hypocalciuric hypercalcemia|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs201633414Pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs28936684Pathogenicsingle nucleotide variantNeonatal severe primary hyperparathyroidism|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs797044441Pathogenicsingle nucleotide variantFamilial hypocalciuric hypercalcemia 1|Inborn genetic diseases|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs121909269Uncertain significancesingle nucleotide variantEpilepsy, idiopathic generalized, susceptibility to, 8|Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs139417576Uncertain significancesingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs193922420Uncertain significancesingle nucleotide variantAutosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia
  • rs193922434Uncertain significancesingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs193922441Uncertain significancesingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1
  • rs199734455Uncertain significancesingle nucleotide variantFamilial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.