Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Ile237Asn (p.I237N)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Val238Glu (p.V238E) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Met240Lys (p.M240K) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ile237Asn (p.I237N) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val238Glu (p.V238E) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Met240Lys (p.M240K) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- congenital adrenal hyperplasia
- Source Database
- ClinVar
- Description
- NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A] AND Congenital adrenal hyperplasia
- ClinVar Allele ID
- 40032
- ClinVar Allele ID
- 27212
- ClinVar Allele ID
- 33507
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.314T>A
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.623T>A
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.620T>A
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.710T>A
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.305T>A
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.308T>A
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.713T>A
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.308T>A
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.305T>A
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.629T>A
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.314T>A
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.719T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-09-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002298450
- ClinVar Disease
- Congenital adrenal hyperplasia
- Observed Origin Sample
- germline
Drugs