Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

AR

Gene name: androgen receptor
OMIM ID: 313700
Chromosome location: Xq12

Mutations

Disease/PhenotypeAndrogen Insensitivity Syndrome
Reference transcriptNM_000044.2
DNA Changec.2567G>A
A.A. Changep.Arg856His
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceBoehmer AL, Brinkmann AO, Niermeijer MF, Bakker L, Halley DJ, Drop SL.Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.
Am J Hum Genet. 1997 Apr;60(4):1003-6.