I839N (p.Ile839Asn) variant of CASR (P41180)
I839N (p.Ile839Asn) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant hypocalcemia 1. The record also includes structural context.
I839N (p.Ile839Asn) variant details
- p.Ile839Asn
- rs2107650645
- ClinGen CA354160132
- ClinVar RCV002272633
- Ensembl rs2107650645
- Likely pathogenic
- Autosomal dominant hypocalcemia 1
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant hypocalcemia 1)
- EBI: Likely pathogenic (in HYPOC1)
- UniProt: Likely pathogenic (in HYPOC1)
- Structural context available