Homo sapiens 21-hydroxylase (CYP21A2) gene, exon 3 and partial cds

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Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency. [J Endocrinol Invest. 2024]
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
Zhang X, Gao Y, Lu L, Cao Y, Zhang W, Sun B, Wu X, Tong A, Chen S, Wang X, et al. J Endocrinol Invest. 2024 Apr; 47(4):833-841. Epub 2023 Oct 10.
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease. [Eur J Endocrinol. 2023]
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Lundtoft C, Eriksson D, Bianchi M, Aranda-Guillén M, Landegren N, Rantapää-Dahlqvist S, Söderkvist P, Meadows JRS, DISSECT Consortium, ImmunoArray Consortium, et al. Eur J Endocrinol. 2023 Aug 2; 189(2):235-241.
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. [Front Endocrinol (Lausanne). 2...]
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA. Front Endocrinol (Lausanne). 2023; 14:1156616. Epub 2023 May 31.

RefSeq alternative splicing
See 7 reference mRNA sequence splice variants for the CYP21A2 gene.

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Nucleotide