Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Ile237_Met240delinsAsnGluGluLys (p.I237_M240delinsNEEK)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Ile237_Met240delinsAsnGluGluLys (p.I237_M240delinsNEEK) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 186703
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.305_314delinsACGAGGAGAA
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.305_314delinsACGAGGAGAA
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.710_719delinsACGAGGAGAA
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.620_629delinsACGAGGAGAA
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-12-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000169566
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Drugs