Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Arg185Ter (p.R185*)
(
ENST00000498619.4,
ENST00000490131.7,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Arg185Ter (p.R185*) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Neonatal severe primary hyperparathyroidism
- Source Database
- ClinVar
- Description
- NM_000388.4(CASR):c.553C>T (p.Arg185Ter) AND Neonatal severe primary hyperparathyroidism
- ClinVar Allele ID
- 23384
- ClinVar RefSeq Alternation Syntax
- NM_001178065.2:c.553C>T
- ClinVar RefSeq Alternation Syntax
- NM_000388.4:c.553C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008850
- ClinVar Disease
- Neonatal severe primary hyperparathyroidism
- Observed Origin Sample
- germline
- Pubmed
- 9253359
Drugs