Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Ile173Asn (p.I173N)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ile173Asn (p.I173N) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Chronic active hepatitis
- Source Database
- DisGeNET
- Description
- Genotyping for the four common mutations (IVS2-13A/C>G, p.Q318X, large lesions of the CYP21A2 gene and p.I172N) should allow identifying the diseased alleles and providing genetic counseling in 94% of CAH Moroccan cases.
- Pubmed
- 18973462
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0423449320445273
- Year of publication
- 2008
Drugs