rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
|
15126570 |
2004 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.
|
25538881 |
2014 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.
|
22313422 |
2012 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
|
25041270 |
2015 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
|
21609351 |
2011 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
|
20926536 |
2011 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
|
10931088 |
2000 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P).
|
16483186 |
2005 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
|
19263525 |
2009 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
|
20838032 |
2011 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
|
24953648 |
2015 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
|
26184415 |
2015 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.
|
22262854 |
2012 |
rs776989258
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Genetic defects of the CYP21A2 gene in girls with premature adrenarche.
|
25481255 |
2015 |
rs7769409
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia.
|
21134444 |
2011 |
rs7769409
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
|
10496074 |
1999 |
rs7769409
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
|
24077358 |
2013 |
rs7769409
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
|
23359698 |
2013 |
rs7769409
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
|
2303461 |
1990 |
rs201552310
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs7755898
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency.
|
23769969 |
2013 |
rs7755898
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
|
14715874 |
2004 |
rs7755898
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Nonsense mutation causing steroid 21-hydroxylase deficiency.
|
3267225 |
1988 |
rs7755898
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
|
23359698 |
2013 |
rs9378251
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.
|
9215318 |
1997 |