Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Arg465Gln (p.R465Q)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Arg465Gln (p.R465Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- familial hypocalciuric hypercalcemia 1
- Source Database
- ClinVar
- Description
- NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) AND Familial hypocalciuric hypercalcemia 1
- ClinVar Allele ID
- 23391
- ClinVar RefSeq Alternation Syntax
- NM_000388.4:c.1394G>A
- ClinVar RefSeq Alternation Syntax
- NM_001178065.2:c.1394G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-08
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008857
- ClinVar Disease
- Familial hypocalciuric hypercalcemia 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Pubmed
- 16598859
Drugs