Y829C (p.Tyr829Cys) variant of CASR (P41180)
Y829C (p.Tyr829Cys) in CASR (P41180) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Nephrolithiasis/nephrocalcinosis. The record also includes structural context.
Y829C (p.Tyr829Cys) variant details
- p.Tyr829Cys
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56139
- Pathogenic
- Nephrolithiasis/nephrocalcinosis
- Missense
- ClinVar: Pathogenic (Nephrolithiasis/nephrocalcinosis)
- UniProt: Pathogenic
- Structural context available