Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Gln319Ter (p.Q319*)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- congenital adrenal hyperplasia
- Source Database
- DisGeNET
- Description
- Discrimination between a normal (Q318X mutation on one of the duplicated CYP21A2 genes) and a congenital adrenal hyperplasia (CAH, Q318X mutation without duplicated functional gene) allele is of importance, particularly for prenatal diagnosis and the respective genetic counseling.
- Pubmed
- 19773403
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.29375669260601
- Year of publication
- 2009
Drugs