Variant (rsID / SNP)
rs117375173
rs117375173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,002,576. Clinical significance in the table: Benign.
Reference-table entries
CASRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:122002576
- Cytoband
- 3q21.1
- HGVS
- NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)
- Allele change
- Missense_N592S
Associated conditions / phenotypes
Familial hypocalciuric hypercalcemia|Autosomal dominant hypocalcemia 1|Familial hypoparathyroidism|Familial hypocalciuric hypercalcemia 1|Autosomal dominant hypocalcemia 1|Neonatal severe primary hyperparathyroidism|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.