Annotation Detail
Information
- Associated Genes
- CYP11B1 LOC106799833
- Associated Variants
-
CYP11B1 p.Leu299Pro (p.L299P)
(
ENST00000292427.10,
ENST00000377675.3,
ENST00000517471.5 )
CYP11B1 p.Leu299Pro (p.L299P) ( ENST00000292427.10, ENST00000377675.3, ENST00000517471.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) AND not provided
- ClinVar Allele ID
- 71455
- ClinVar RefSeq Alternation Syntax
- NM_000497.4:c.896T>C
- ClinVar RefSeq Alternation Syntax
- NM_001026213.1:c.896T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000991870
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs