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
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- 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
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-04-04
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012933
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Observed Origin Sample
- unknown
- Pubmed
- 2303461
- Pubmed
- 8175971
- Pubmed
- 1644925
- Pubmed
- 1937474
- Pubmed
- 8081391
- Pubmed
- 9215318
- Pubmed
- 3257825
- Pubmed
- 1496017
Drugs