Variant (rsID / SNP)

rs137852599

rs137852599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AR. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq12
HGVS: NM_000044.6(AR):c.2069A>C (p.His690Pro)
Allele change: Missense_H690P

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.