AR

androgen receptor

HCNC Approved Symbol: AR (HGNC:644)
Genomic Coordinates: 23:67,544,021 - 67,730,619 (Xq12)
Synonyms: AIS, NR3C4, SMAX1, HUMARA, DHTR, SBMA
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

20Patients

In total, 20 patients were diagnosed with a variant in the AR gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

020
Patient count

Ambiguous genitalia: 7 (35.0%)
Patient Count: 7 (35.0%)
% of total patients presenting each phenotype is shown in parentheses.
7 (35.0%)
Female external genitalia in individual with 46,xy karyotype: 6 (30.0%)
Patient Count: 6 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (30.0%)
Ambiguous genitalia, male: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Undescended testis: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Hypospadias: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)