Annotation Detail
Information
- Associated Genes
- CYP21A2 TNXB LOC106780800
- Associated Variants
-
CYP21A2 p.Leu308PhefsTer6 (p.L308Ffs*6)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Leu308PhefsTer6 (p.L308Ffs*6) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg357Trp (p.R357W) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg357Trp (p.R357W) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T] AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- ClinVar Allele ID
- 27190
- ClinVar Allele ID
- 27191
- ClinVar Allele ID
- 76519
- ClinVar Allele ID
- 27208
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.664C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.518dup
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.979C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.833dup
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.844G>T
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.550C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.754G>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.439G>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.923dup
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.439G>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.664C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.865C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.550C>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.955C>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.1069C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.518dup
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000417198
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Pubmed
- 7629224
- Pubmed
- 12915679
- Pubmed
- 11093272
Drugs