Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Ile173Asn (p.I173N)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Ile173Asn (p.I173N) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) AND Inborn genetic diseases
- ClinVar Allele ID
- 27189
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.428T>A
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.113T>A
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.113T>A
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.518T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-09-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000622562
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs