Annotation Detail
Information
- Associated Genes
- CYP24A1
- Associated Variants
-
CYP24A1 p.Ala184= (p.A184=)
(
ENST00000216862.8,
ENST00000395954.3,
ENST00000395955.7 )
CYP24A1 p.Ala184= (p.A184=) ( ENST00000216862.8, ENST00000395954.3, ENST00000395955.7 ) - Associated Disease
- Hypercalcemia, infantile, 1
- Source Database
- ClinVar
- Description
- NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) AND Hypercalcemia, infantile, 1
- ClinVar Allele ID
- 350152
- ClinVar RefSeq Alternation Syntax
- NM_001128915.2:c.552C>T
- ClinVar RefSeq Alternation Syntax
- NM_000782.5:c.552C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000603458
- ClinVar Disease
- Hypercalcemia, infantile, 1
- Observed Origin Sample
- germline
Drugs