|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.
|
27721825 |
2016 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Genetic defects of the CYP21A2 gene in girls with premature adrenarche.
|
25481255 |
2015 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
BEFREE |
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.
|
25538881 |
2014 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
|
20926536 |
2011 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
|
20838032 |
2011 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
|
20080860 |
2010 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
|
18319307 |
2008 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
|
18445671 |
2008 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
|
15110320 |
2004 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
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
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
|
14676460 |
2004 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
|
12788866 |
2003 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
|
11598371 |
2001 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
|
11600539 |
2001 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
T |
0.820 |
CausalMutation
|
CLINVAR |
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
|
10931088 |
2000 |
|
rs776989258
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.
|
10051010 |
1999 |