Variant (rsID / SNP)
rs115230894
rs115230894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,000,982. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:122000982
- Cytoband
- 3q21.1
- HGVS
- NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
- Allele change
- Missense_R544Q
Associated conditions / phenotypes
Autosomal 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.