rs137852591
|
|
Reifenstein Syndrome
|
G |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs137852591
|
|
Malignant neoplasm of prostate
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.
|
8823308 |
1996 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.
|
7970939 |
1994 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.
|
7970939 |
1994 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.
|
7649358 |
1995 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
|
8325932 |
1993 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.
|
8281140 |
1993 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.
|
1316540 |
1992 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.
|
1316540 |
1992 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.
|
7929841 |
1994 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor.
|
8809734 |
1996 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Androgen receptor defects: historical, clinical, and molecular perspectives.
|
7671849 |
1995 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.
|
1307250 |
1992 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Androgen receptor gene mutations in 46,XY females with germ cell tumours.
|
10221692 |
1999 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
|
9302173 |
1997 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
|
9302173 |
1997 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.
|
8126121 |
1994 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
|
9039340 |
1996 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
|
9039340 |
1996 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
|
14756668 |
2004 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
|
14756668 |
2004 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.
|
10543676 |
1999 |
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
11587068 |
2001 |
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
11587068 |
2001 |