V817I (p.Val817Ile) variant of CASR (P41180)
V817I (p.Val817Ile) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Hypertr. The record also includes published literature and structural context.
V817I (p.Val817Ile) variant details
- p.Val817Ile
- rs1057518933
- ClinGen CA16043395
- cosmic curated COSV56134
- ClinVar RCV000415394
- Pathogenic/Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Hypertr
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. (PMID 8878438)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)