Disorder Details

Item Details
Gene/Locus name

AR (also called AIS,NR3C4,SMAX1,HUMARA)

Long Name

androgen receptor (OMIM 313700)

Laboratories
Associated Disorders

OMIM 300068 : Androgen insensitivity
OMIM 300633 : Hypospadias 1, X-linked
OMIM 312300 : Androgen insensitivity, partial, with or without breast cancer
OMIM 313200 : Spinal and bulbar muscular atrophy, X-linked 1
OMIM 176807 : Prostate cancer, susceptibility to

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

HGNC Last Edit Date

15/03/2023

17-Apr-2024
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Site Statistics
No. of genes : 1275
No. of labs : 45
No. of tests : 1705

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25-Jan-2019
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