Variant (rsID / SNP)
rs150869744
rs150869744 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASR. Location: chromosome 3, position 122,002,865. 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
- 3:122002865
- Cytoband
- 3q21.1
- HGVS
- NM_000388.4(CASR):c.2064C>T (p.Phe688=)
- Allele change
- Synonymous_F688F
Associated conditions / phenotypes
Familial 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.