Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Gly111ValfsTer21 (p.G111Vfs*21)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gly111ValfsTer21 (p.G111Vfs*21) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- ClinVar Allele ID
- 27203
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.242_249del
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.-74_-67del
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.332_339del
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.-74_-67del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012946
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
- Pubmed
- 12788880
- Pubmed
- 3260033
Drugs