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
- not provided
- Source Database
- ClinVar
- Description
- NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND not provided
- ClinVar Allele ID
- 313361
- ClinVar RefSeq Alternation Syntax
- NM_000498.3:c.518A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001520473
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs