D48N (p.Asp48Asn) variant of CASR (P41180)
D48N (p.Asp48Asn) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The record also includes structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- rs2473205661
- ClinGen CA354362216
- ClinVar RCV003812526
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available