Variant (rsID / SNP)

rs700519

rs700519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP19A1. Location: chromosome 15, position 51,507,968. Clinical significance in the table: Benign.

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Reference-table entries

CYP19A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:51507968
Cytoband: 15q21.2
HGVS: NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys)
Allele change: Silent

Associated conditions / phenotypes

Aromatase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.