Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800 LOC110631417
- Associated Variants
-
CYP21A2 c.-4C>T
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 c.-4C>T ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.-4C>T AND not provided
- ClinVar Allele ID
- 252220
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.-338C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.-428C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.-4C>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.-4C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-10-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003477866
- ClinVar Disease
- not provided
- Observed Origin Sample
- unknown
Drugs