Annotation Detail
Information
- Associated Genes
- CYP11B1 LOC106799833
- Associated Variants
-
CYP11B1 p.Arg448His (p.R448H)
(
ENST00000292427.10,
ENST00000377675.3,
ENST00000517471.5 )
CYP11B1 p.Arg448His (p.R448H) ( ENST00000292427.10, ENST00000377675.3, ENST00000517471.5 ) - Associated Disease
- glucocorticoid-remediable aldosteronism
- Source Database
- ClinVar
- Description
- NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) AND Glucocorticoid-remediable aldosteronism
- ClinVar Allele ID
- 16210
- ClinVar RefSeq Alternation Syntax
- NM_000497.4:c.1343G>A
- ClinVar RefSeq Alternation Syntax
- NM_001026213.1:c.1200+222G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-04-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001199200
- ClinVar Disease
- Glucocorticoid-remediable aldosteronism
- Observed Origin Sample
- unknown
Drugs