Variant: rs1370167869 

    present in Gene: CYP21A2;TNXB
    present in Chromosome: 6
    Position on Chromosome: 32040925
    Alleles of this Variant: C/T

rs1370167869 in CYP21A2;TNXB gene and Congenital adrenal hyperplasia due to 21 hydroxylase deficiency PMID 1496017 1992 Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

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

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

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

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

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

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

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

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

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

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

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

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

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

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.