KEGG   VARIANT: 1588v1
Entry
1588v1                      Variant                                
Name
CYP19A1 (aromatase) deficiency
Type
Loss of function
Gene
CYP19A1  cytochrome P450 family 19 subfamily A member 1 [KO:K07434]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107910
Network
nt06019  Steroid hormone biosynthesis
Disease
H02020  Aromatase deficiency
Reference
PMID:34538723
  Authors
Fukami M, Ogata T
  Title
Congenital disorders of estrogen biosynthesis and action.
  Journal
Best Pract Res Clin Endocrinol Metab 36:101580 (2022)
DOI:10.1016/j.beem.2021.101580
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