KEGG   VARIANT: 1589v1
Entry
1589v1                      Variant                                
Name
CYP21A2 deficiency
Type
Loss of function
Gene
CYP21A2  cytochrome P450 family 21 subfamily A member 2 [KO:K00513]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613815
Network
nt06019  Steroid hormone biosynthesis
Disease
H00216  Congenital adrenal hyperplasia
Reference
PMID:23359698
  Authors
New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T
  Title
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
  Journal
Proc Natl Acad Sci U S A 110:2611-6 (2013)
DOI:10.1073/pnas.1300057110
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