CYP19A1 Chromosome 15
Cytochrome P450 family 19 subfamily A member 1
Upload your DNA to see your personal genotypes for variants in CYP19A1.
What This Gene Does
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Cytochrome P450 family 19|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000137869
Associated Conditions (8)
Letrozole response
Pulmonary disease
chronic obstructive
susceptibility to
Aromatase deficiency
Aromatase excess syndrome
CYP19A1-related disorder
Premature ovarian failure
Key Variants
RS727479
drug response
Letrozole response, Letrozole response
Drug Response
RS2899472
association
Pulmonary disease, chronic obstructive, susceptibility to
Health Risk
RS139905959
Conflicting classifications of pathogenicity
Aromatase deficiency, Aromatase deficiency
Health Risk
RS143386224
Conflicting classifications of pathogenicity
Aromatase deficiency, Aromatase deficiency
Health Risk
RS143562020
Conflicting classifications of pathogenicity
Aromatase deficiency, Aromatase deficiency
Health Risk
RS146495071
Conflicting classifications of pathogenicity
Aromatase deficiency, Aromatase deficiency
Health Risk
RS199845027
Conflicting classifications of pathogenicity
Aromatase deficiency, Aromatase excess syndrome, Aromatase deficiency
Health Risk
RS200111039
Conflicting classifications of pathogenicity
Aromatase deficiency, CYP19A1-related disorder, Aromatase deficiency
Health Risk
RS35900050
Conflicting classifications of pathogenicity
Aromatase deficiency, Aromatase deficiency
Health Risk
RS374079882
Conflicting classifications of pathogenicity
Aromatase deficiency, Aromatase deficiency
Health Risk
RS375975652
Conflicting classifications of pathogenicity
Aromatase deficiency, Premature ovarian failure, Aromatase deficiency
Health Risk
RS375990501
Conflicting classifications of pathogenicity
Aromatase deficiency, Aromatase excess syndrome, Aromatase deficiency
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS727479 | Drug Response | drug response | Letrozole response, Letrozole response |
| RS2899472 | Health Risk | association | Pulmonary disease, chronic obstructive, susceptibility to |
| RS139905959 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS143386224 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS143562020 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS146495071 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS199845027 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase excess syndrome, Aromatase deficiency |
| RS200111039 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, CYP19A1-related disorder, Aromatase deficiency |
| RS35900050 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS374079882 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS375975652 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Premature ovarian failure, Aromatase deficiency |
| RS375990501 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase excess syndrome, Aromatase deficiency |
| RS767752968 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774007712 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS775991900 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS781489846 | Health Risk | Conflicting classifications of pathogenicity | Aromatase deficiency, Aromatase deficiency |
| RS1057518574 | Health Risk | Likely pathogenic | — |
| RS2542412522 | Health Risk | Likely pathogenic | — |
| RS2542465662 | Health Risk | Likely pathogenic | — |
| RS2542466633 | Health Risk | Likely pathogenic | Aromatase excess syndrome, Aromatase deficiency, Aromatase excess syndrome |
| RS750338018 | Health Risk | Likely pathogenic | — |
| RS764949820 | Health Risk | Likely pathogenic | — |
| RS768157788 | Health Risk | Likely pathogenic | Aromatase deficiency, Aromatase excess syndrome, Aromatase deficiency |
| RS80051519 | Health Risk | Likely pathogenic | Aromatase deficiency, Aromatase deficiency |
| RS121434534 | Health Risk | Pathogenic | Aromatase deficiency, Aromatase deficiency |
| RS121434536 | Health Risk | Pathogenic | Aromatase deficiency, Aromatase deficiency |
| RS121434538 | Health Risk | Pathogenic | Aromatase deficiency, Aromatase excess syndrome, Aromatase deficiency |
| RS1217078313 | Health Risk | Pathogenic | — |
| RS1239898028 | Health Risk | Pathogenic | — |
| RS1359922150 | Health Risk | Pathogenic | — |
| RS1595665808 | Health Risk | Pathogenic | — |
| RS1595671510 | Health Risk | Pathogenic | — |
| RS2141034312 | Health Risk | Pathogenic | — |
| RS2141034530 | Health Risk | Pathogenic | — |
| RS2141041805 | Health Risk | Pathogenic | — |
| RS2141051168 | Health Risk | Pathogenic | — |
| RS2141051210 | Health Risk | Pathogenic | — |
| RS2141051275 | Health Risk | Pathogenic | — |
| RS2141061879 | Health Risk | Pathogenic | — |
| RS2141062122 | Health Risk | Pathogenic | — |
| RS2141079375 | Health Risk | Pathogenic | Aromatase deficiency, Aromatase deficiency |
| RS2141105930 | Health Risk | Pathogenic | — |
| RS2141123410 | Health Risk | Pathogenic | — |
| RS2542394345 | Health Risk | Pathogenic | — |
| RS2542394488 | Health Risk | Pathogenic | — |
| RS2542402114 | Health Risk | Pathogenic | — |
| RS2542404539 | Health Risk | Pathogenic | — |
| RS2542412670 | Health Risk | Pathogenic | — |
| RS2542412966 | Health Risk | Pathogenic | — |
| RS2542423178 | Health Risk | Pathogenic | — |