Variant: rs6471 

    present in Gene: CYP21A2
    present in Chromosome: 6
    Position on Chromosome: 32040110
    Alleles of this Variant: G/A;C;T

rs6471 in CYP21A2 gene and Congenital adrenal hyperplasia due to 21 hydroxylase deficiency PMID 1644925 1992 Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 20661889 2010 Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.

PMID 23359698 2013 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

PMID 1864962 1991 Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.

PMID 20926536 2011 Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 21609351 2011 Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

PMID 23359706 2013 Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

PMID 2249999 1990 A single amino acid substitution (Val281----Leu) present in patients with mild "nonclassical" 21-hydroxylase deficiency resulted in an enzyme with 20-50% of normal activity.

PMID 14513879 2003 Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.

rs6471 in CYP21A2 gene and Movement Disorders PMID 9521938 1998 Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

PMID 24904866 2013 Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

PMID 25041270 2015 The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.

PMID 10857554 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 23359698 2013 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

PMID 15964450 2005 Congenital adrenal hyperplasia.

PMID 12930931 2003 Congenital adrenal hyperplasia.

PMID 23692712 2013 Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

PMID 24778650 2014 Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.