Annotation Detail
Information
- Associated Genes
- CYP11B2
- Associated Variants
-
CYP11B2 MUTATION
CYP11B2 MUTATION
CYSLTR2 p.Val141Ala (p.V141A) ( ENST00000282018.4, ENST00000614739.4, ENST00000682523.1 )
LPAR2 p.Thr233Met (p.T233M) ( ENST00000407877.8, ENST00000542587.5, ENST00000586703.1 )
GRK4 p.Arg65His (p.R65H) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Arg65Leu (p.R65L) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Val486Ala (p.V486A) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala533Val (p.A533V) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
CYSLTR2 p.Val141Ala (p.V141A) ( ENST00000282018.4, ENST00000614739.4, ENST00000682523.1 )
LPAR2 p.Thr233Met (p.T233M) ( ENST00000407877.8, ENST00000542587.5, ENST00000586703.1 )
GRK4 p.Arg65His (p.R65H) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Arg65Leu (p.R65L) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Val486Ala (p.V486A) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala533Val (p.A533V) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 ) - Associated Disease
- essential hypertension
- Source Database
- DisGeNET
- Description
- Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.
- Pubmed
- 12446468
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.012138939373493
- Year of publication
- 2002
Drugs