Annotation Detail
Information
- Associated Genes
- CYP11B1
- Associated Variants
-
CYP11B1 p.Arg43Gln (p.R43Q)
(
ENST00000292427.10,
ENST00000377675.3,
ENST00000517471.5 )
CYP11B1 p.Arg43Gln (p.R43Q) ( ENST00000292427.10, ENST00000377675.3, ENST00000517471.5 ) - Associated Disease
- Deficiency of steroid 11-beta-monooxygenase
- Source Database
- ClinVar
- Description
- NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) AND Deficiency of steroid 11-beta-monooxygenase
- ClinVar Allele ID
- 313343
- ClinVar RefSeq Alternation Syntax
- NM_001026213.1:c.128G>A
- ClinVar RefSeq Alternation Syntax
- NM_000497.4:c.128G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-04-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000398709
- ClinVar Disease
- Deficiency of steroid 11-beta-monooxygenase
- Observed Origin Sample
- germline
Drugs