G670E (p.Gly670Glu) variant of CASR (P41180)
G670E (p.Gly670Glu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neonatal severe primary hyperparathyroidism. The record also includes published literature and structural context.
G670E (p.Gly670Glu) variant details
- p.Gly670Glu
- rs104893700
- ClinGen CA119497
- ClinVar RCV000008831
- UniProt VAR 058073
- Pathogenic
- Neonatal severe primary hyperparathyroidism
- Missense
- ClinVar: Pathogenic (Neonatal severe primary hyperparathyroidism)
- EBI: Pathogenic (in NSHPT)
- UniProt: Pathogenic (in NSHPT)
- Structural context available
- Cited in: Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. (PMID 9253359)
- Cited in: Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. (PMID 14985373)