Q24R (p.Gln24Arg) variant of CASR (P41180)
Q24R (p.Gln24Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol. The record also includes structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs2473205278
- ClinGen CA354362070
- ClinVar RCV003786786
- ClinVar RCV004366548
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol
- Missense
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available