E228Q (p.Glu228Gln) variant of CASR (P41180)
E228Q (p.Glu228Gln) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The record also includes structural context.
E228Q (p.Glu228Gln) variant details
- p.Glu228Gln
- rs2473226024
- ClinGen CA354151115
- ClinVar RCV003781014
- Pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available