H41N (p.His41Asn) variant of CASR (P41180)
H41N (p.His41Asn) 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.
H41N (p.His41Asn) variant details
- p.His41Asn
- rs2473205535
- ClinGen CA354362174
- ClinVar RCV002302092
- ClinVar RCV003984249
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available