Variant (rsID / SNP)

rs137852598

rs137852598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AR. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ARPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq12
HGVS: NM_000044.6(AR):c.2571C>G (p.Phe857Leu)
Allele change: Missense_F857L

Associated conditions / phenotypes

Androgen resistance 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.