Annotation Detail
Information
- Associated Genes
- BMS1
- Associated Variants
-
CYP21A2 p.Ala16Thr (p.A16T)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Pro31Leu (p.P31L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ala16Thr (p.A16T) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro31Leu (p.P31L) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- hypertrichosis
- Source Database
- DisGeNET
- Description
- By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
- Pubmed
- 15126570
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2004
Drugs