Annotation Detail
Information
- Associated Genes
- CYP11B2 LOC106799834
- Associated Variants
-
CYP11B2 p.Tyr275= (p.Y275=)
(
ENST00000323110.2 )
CYP11B2 p.Tyr275= (p.Y275=) ( ENST00000323110.2 ) - Associated Disease
- Corticosterone methyl oxidase type II deficiency
- Source Database
- ClinVar
- Description
- NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) AND Corticosterone methyl oxidase type II deficiency
- ClinVar Allele ID
- 722890
- ClinVar RefSeq Alternation Syntax
- NM_000498.3:c.825C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-09-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001271154
- ClinVar Disease
- Corticosterone methyl oxidase type II deficiency
- Observed Origin Sample
- germline
Drugs