Variant (rsID / SNP)
rs199884115
rs199884115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,003,756. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CASRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:122003756
- Cytoband
- 3q21.1
- HGVS
- NM_000388.4(CASR):c.2955C>T (p.Asn985=)
- Allele change
- Synonymous_N985N
Associated conditions / phenotypes
Neonatal severe primary hyperparathyroidism|Autosomal dominant hypocalcemia 1|Familial hypoparathyroidism|Familial hypocalciuric hypercalcemia 1|Autosomal dominant hypocalcemia 1|Familial hypocalciuric hypercalcemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.