Variant: rs72552756 

    present in Gene: TNXB;CYP21A2
    present in Chromosome: 6
    Position on Chromosome: 32040692
    Alleles of this Variant: G/C

rs72552756 in TNXB;CYP21A2 gene and Congenital adrenal hyperplasia due to 21 hydroxylase deficiency PMID 10364682 1999 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.

PMID 10198222 1999 Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).

PMID 18445671 2008 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.

PMID 1496017 1992 Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

PMID 18319307 2008 p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

PMID 2072928 1991 A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.

PMID 20080860 2010 Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

PMID 9497336 1998 Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.

PMID 14676460 2004 Three novel mutations in Japanese patients with 21-hydroxylase deficiency.

PMID 15110320 2004 Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

PMID 8989258 1997 Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.

PMID 27721825 2016 Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.

PMID 3260007 1988 Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.

PMID 11598371 2001 Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.

PMID 12788866 2003 Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.

PMID 3871526 1985 Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

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 10408786 1999 A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.

PMID 10051010 1999 Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.

PMID 11600539 2001 Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.