|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.
|
27721825 |
2016 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
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 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
|
18319307 |
2008 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
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 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
|
14676460 |
2004 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
|
15110320 |
2004 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
|
12788866 |
2003 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
|
11598371 |
2001 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
|
11600539 |
2001 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
|
10364682 |
1999 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).
|
10198222 |
1999 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.
|
10051010 |
1999 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
|
10408786 |
1999 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.
|
9497336 |
1998 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
|
8989258 |
1997 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
|
1496017 |
1992 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.
|
2072928 |
1991 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
|
1864962 |
1991 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.
|
3260007 |
1988 |
|
rs574370139
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.
|
3871526 |
1985 |