Variant (rsID / SNP)

rs1800053

rs1800053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AR. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ARConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq12
HGVS: NM_000044.6(AR):c.1937C>A (p.Ala646Asp)
Allele change: Missense_A646D

Associated conditions / phenotypes

Partial androgen insensitivity syndrome|Castleman-Kojima disease

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.