Q27R (p.Gln27Arg) variant of CASR (P41180)
Q27R (p.Gln27Arg) in CASR (P41180) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- UniProt VAR 065198
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of… (PMID 10468915)