Variant (rsID / SNP)

rs121434536

rs121434536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP19A1. Location: chromosome 15, position 51,504,657. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP19A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:51504657
Cytoband: 15q21.2
HGVS: NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys)
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.