Variant (rsID / SNP)

rs700518

rs700518 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP19A1. Location: chromosome 15, position 51,529,112. 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: 15:51529112
Cytoband: 15q21.2
HGVS: NM_000103.4(CYP19A1):c.240A>G (p.Val80=)
Allele change: Silent

Associated conditions / phenotypes

Aromatase deficiency|Aromatase excess syndrome

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.