Annotation Detail
Information
- Associated Genes
- CYP11B2 LOC106799834
- Associated Variants
-
CYP11B2 p.Lys173Arg (p.K173R)
(
ENST00000323110.2 )
CYP11B2 p.Lys173Arg (p.K173R) ( ENST00000323110.2 ) - Associated Disease
- glucocorticoid-remediable aldosteronism
- Source Database
- ClinVar
- Description
- NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND Glucocorticoid-remediable aldosteronism
- ClinVar Allele ID
- 313361
- ClinVar RefSeq Alternation Syntax
- NM_000498.3:c.518A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000307908
- ClinVar Disease
- Glucocorticoid-remediable aldosteronism
- Observed Origin Sample
- germline
Drugs