rs1386577803
|
|
Androgen-Insensitivity Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
Two cases were affected with androgen insensitivity syndrome (AIS) (missense mutation on exon 7, position c.3637 G>A: p.R841H and position c.3610 G>A: p.R832Q), one case was affected with 5-alpha-reductase deficiency type 2 (missense mutation at c.578A>G: p.N193S on exon 4), and 22 cases (88%) did not demonstrate AIS or 5α-RD2 gene abnormality.
|
30815925 |
2019 |
rs1386577803
|
|
Androgen-Insensitivity Syndrome
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
|
20150575 |
2010 |
rs1386577803
|
|
Androgen-Insensitivity Syndrome
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.
|
10834333 |
2000 |
rs1386577803
|
|
Androgen-Insensitivity Syndrome
|
A |
0.720 |
CausalMutation
|
CLINVAR |
All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS.
|
10458483 |
1999 |
rs1386577803
|
|
Androgen-Insensitivity Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS.
|
10458483 |
1999 |
rs1386577803
|
|
Androgen-Insensitivity Syndrome
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
|
2082179 |
1990 |
rs1386577803
|
|
Bulbo-Spinal Atrophy, X-Linked
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
|
20150575 |
2010 |
rs1386577803
|
|
Bulbo-Spinal Atrophy, X-Linked
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.
|
10834333 |
2000 |
rs1386577803
|
|
Bulbo-Spinal Atrophy, X-Linked
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.
|
10458483 |
1999 |
rs1386577803
|
|
Bulbo-Spinal Atrophy, X-Linked
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
|
2082179 |
1990 |
rs1386577803
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two cases were affected with androgen insensitivity syndrome (AIS) (missense mutation on exon 7, position c.3637 G>A: p.R841H and position c.3610 G>A: p.R832Q), one case was affected with 5-alpha-reductase deficiency type 2 (missense mutation at c.578A>G: p.N193S on exon 4), and 22 cases (88%) did not demonstrate AIS or 5α-RD2 gene abnormality.
|
30815925 |
2019 |
rs1386577803
|
|
5-Alpha Reductase Deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two cases were affected with androgen insensitivity syndrome (AIS) (missense mutation on exon 7, position c.3637 G>A: p.R841H and position c.3610 G>A: p.R832Q), one case was affected with 5-alpha-reductase deficiency type 2 (missense mutation at c.578A>G: p.N193S on exon 4), and 22 cases (88%) did not demonstrate AIS or 5α-RD2 gene abnormality.
|
30815925 |
2019 |