Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Glu127Ala (p.E127A)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Glu127Ala (p.E127A) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Epilepsy, idiopathic generalized, susceptibility to, 8 autosomal dominant hypocalcemia 1 familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism
- Source Database
- ClinVar
- Description
- NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND multiple conditions
- ClinVar Allele ID
- 23354
- ClinVar RefSeq Alternation Syntax
- NM_000388.4:c.380A>C
- ClinVar RefSeq Alternation Syntax
- NM_001178065.2:c.380A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002482842
- ClinVar Disease
- Neonatal severe primary hyperparathyroidism
- ClinVar Disease
- Epilepsy, idiopathic generalized, susceptibility to, 8
- ClinVar Disease
- Autosomal dominant hypocalcemia 1
- ClinVar Disease
- Familial hypocalciuric hypercalcemia 1
- Observed Origin Sample
- unknown
Drugs