Annotation Detail
Information
- Associated Genes
- CYP11B1
- Associated Variants
-
CYP11B1 c.*1209C>T
(
ENST00000292427.10 )
CYP11B1 c.*1209C>T ( ENST00000292427.10 ) - Associated Disease
- glucocorticoid-remediable aldosteronism
- Source Database
- ClinVar
- Description
- NM_000497.4(CYP11B1):c.*1209C>T AND Glucocorticoid-remediable aldosteronism
- ClinVar Allele ID
- 308256
- ClinVar RefSeq Alternation Syntax
- NM_001026213.1:c.*1209C>T
- ClinVar RefSeq Alternation Syntax
- NM_000497.4:c.*1209C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000295446
- ClinVar Disease
- Glucocorticoid-remediable aldosteronism
- Observed Origin Sample
- germline
Drugs