CYP19A1, cytochrome P450 family 19 subfamily A member 1, 1588
N. diseases: 519; N. variants: 77
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. | 24705274 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. | 24705274 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. | 24705274 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Effect of testosterone and estradiol in a man with aromatase deficiency. | 9211678 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | Effect of testosterone and estradiol in a man with aromatase deficiency. | 9211678 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | Effect of testosterone and estradiol in a man with aromatase deficiency. | 9211678 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. | 8530621 | 1995 | |||||||
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0.800 | GeneticVariation | UNIPROT | Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. | 8530621 | 1995 | |||||||
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0.800 | GeneticVariation | UNIPROT | Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. | 8530621 | 1995 | |||||||
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0.800 | GeneticVariation | UNIPROT | Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. | 8265607 | 1993 | |||||||
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0.800 | GeneticVariation | UNIPROT | Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. | 8265607 | 1993 | |||||||
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0.800 | GeneticVariation | UNIPROT | Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. | 8265607 | 1993 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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0.710 | GeneticVariation | BEFREE | R192H is a novel CYP19A1 mutation which causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy. | 24705274 | 2014 | |||||||
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0.710 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | The man with clinical features of aromatase deficiency had novel compound heterozygous CYP19A1 mutations (Y81C and L451P) that were not found in 50 unrelated persons. | 25301327 | 2015 |