Androgen Insensitivity Syndrome

OMIM:300068
Mode of inheritance:X-linked recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	AR
Reference transcript	NM_000044.2
DNA Change	c.2567G>A
A.A. Change	p.Arg856His
Exon/Intron	exon 7
Mutation Type	substitution
Reference	Boehmer 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.

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