Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Pro758Gln (p.P758Q)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Pro758Gln (p.P758Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- familial hypocalciuric hypercalcemia
- Source Database
- ClinVar
- Description
- NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) AND Familial hypocalciuric hypercalcemia
- ClinVar Allele ID
- 44452
- ClinVar RefSeq Alternation Syntax
- NM_000388.4:c.2243C>A
- ClinVar RefSeq Alternation Syntax
- NM_001178065.2:c.2273C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-10-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029440
- ClinVar Disease
- Familial hypocalciuric hypercalcemia
- Observed Origin Sample
- germline
Drugs