Annotation Detail
Information
- Associated Genes
- CYP24A1
- Associated Variants
-
CYP24A1 c.990+174G>A
(
ENST00000216862.8,
ENST00000395954.3,
ENST00000395955.7 )
CYP24A1 c.990+174G>A ( ENST00000216862.8, ENST00000395954.3, ENST00000395955.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000782.5(CYP24A1):c.990+174G>A AND not provided
- ClinVar Allele ID
- 1272205
- ClinVar RefSeq Alternation Syntax
- NM_000782.5:c.990+174G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128915.2:c.990+174G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001695743
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs