F788C (p.Phe788Cys) variant of CASR (P41180)
F788C (p.Phe788Cys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol. The record also includes published literature and structural context.
F788C (p.Phe788Cys) variant details
- p.Phe788Cys
- rs104893701
- ClinGen CA119509
- ClinVar RCV000008838
- ClinVar RCV001851748
- Pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol
- Missense
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the… (PMID 9661634)
- Cited in: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (PMID 10487661)