Variant: rs1057521122 

    present in Gene: AR
    present in Chromosome: X
    Position on Chromosome: 67722881
    Alleles of this Variant: A/G

rs1057521122 in AR gene and Androgen-Insensitivity Syndrome PMID 1464650 1992 Immunoreactive androgen receptor expression in subjects with androgen resistance.

PMID 10458483 1999 Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.

PMID 10221692 1999 Androgen receptor gene mutations in 46,XY females with germ cell tumours.

PMID 9698822 1998 Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.

PMID 7671849 1995 Androgen receptor defects: historical, clinical, and molecular perspectives.

PMID 7537149 1995 Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.

PMID 8325950 1993 Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.

PMID 14756668 2004 Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.

PMID 7581399 1995 Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.

PMID 8809734 1996 Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor.

PMID 8281140 1993 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.

PMID 8040309 1994 Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.

PMID 7970939 1994 A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

PMID 8723113 1996 The clinical and molecular spectrum of androgen insensitivity syndromes.

PMID 11587068 2001 Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

PMID 9302173 1997 Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.

PMID 9544375 1998 Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.

PMID 9610419 1998 One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.

PMID 1316540 1992 Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.

PMID 9039340 1996 Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.