D31H (p.Asp31His) variant of CASR (P41180)
D31H (p.Asp31His) 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. The record also includes structural context.
D31H (p.Asp31His) variant details
- p.Asp31His
- rs2473205382
- ClinGen CA354362111
- ClinVar RCV003807050
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available