AAAS

Gene name: achalasia, adrenocortical insufficiency, alacrimia
OMIM ID: 605378
Chromosome location: 12q13

Mutations

Disease/Phenotype	Achalasia-Addisonianism-Alacrima Syndrome
Reference transcript	NM_015665.5
DNA Change	c.1024C>T
A.A. Change	p.Arg342Stop
Exon/Intron	exon 11
Mutation Type	substitution
Reference	Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A.Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet. 2001 Feb 1;10(3):283-90.

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