G35W (p.Gly35Trp) variant of CASR (P41180)
G35W (p.Gly35Trp) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol. The record also includes structural context.
G35W (p.Gly35Trp) variant details
- p.Gly35Trp
- rs2473205437
- ClinGen CA354362138
- ClinVar RCV002303434
- ClinVar RCV004047659
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available