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Variant (rsID / SNP)

rs137852564

AR

rs137852564 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.2599G>A (p.Val867Met)
Allele change
Missense_V867L

Associated conditions / phenotypes

Androgen resistance syndrome|Hypospadias 1, X-linked|Partial androgen insensitivity syndrome|Androgen resistance syndrome|Malignant tumor of prostate|Kennedy disease|Androgen resistance syndrome|Kennedy disease

Public references

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