Annotation Detail
Information
- Associated Genes
- TNC
- Associated Variants
-
CYP21A2 p.Ile173Asn (p.I173N)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Val238Glu (p.V238E) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Met (p.V282M) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( 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.Ile173Asn (p.I173N) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val238Glu (p.V238E) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Met (p.V282M) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( 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
- congenital adrenal hyperplasia
- Source Database
- DisGeNET
- Description
- To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene.
- Pubmed
- 21117955
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2011
Drugs