Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Arg658Ter (p.R658*)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Arg658Ter (p.R658*) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Neonatal severe primary hyperparathyroidism
- Source Database
- ClinVar
- Description
- NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) AND Neonatal severe primary hyperparathyroidism
- ClinVar Allele ID
- 23380
- ClinVar RefSeq Alternation Syntax
- NM_001178065.2:c.1972C>T
- ClinVar RefSeq Alternation Syntax
- NM_000388.4:c.1942C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000054484
- ClinVar Disease
- Neonatal severe primary hyperparathyroidism
- Observed Origin Sample
- germline
- Pubmed
- 11231970
- Pubmed
- 15292296
Drugs