Q245R (p.Gln245Arg) variant of CASR (P41180)
Q245R (p.Gln245Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The record also includes structural context.
Q245R (p.Gln245Arg) variant details
- p.Gln245Arg
- rs2473226212
- ClinGen CA354151238
- ClinVar RCV002651723
- Pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available