Variant (rsID / SNP)

rs1802757

rs1802757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,005,131. Clinical significance in the table: Benign.

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Reference-table entries

CASRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:122005131
Cytoband: 3q21.1
HGVS: NM_000388.4(CASR):c.*1093C>T
Allele change: Silent

Associated conditions / phenotypes

Familial hypoparathyroidism|Autosomal dominant hypocalcemia 1|Neonatal severe primary hyperparathyroidism|Familial hypocalciuric hypercalcemia 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.