Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Thr838Pro (p.T838P)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Thr838Pro (p.T838P) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- familial hypocalciuric hypercalcemia 1
- Source Database
- ClinVar
- Description
- NM_000388.4(CASR):c.2482A>C (p.Thr828Pro) AND Familial hypocalciuric hypercalcemia 1
- ClinVar Allele ID
- 198615
- ClinVar RefSeq Alternation Syntax
- NM_000388.4:c.2482A>C
- ClinVar RefSeq Alternation Syntax
- NM_001178065.2:c.2512A>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000987312
- ClinVar Disease
- Familial hypocalciuric hypercalcemia 1
- Observed Origin Sample
- unknown
Drugs