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

ASPM

Gene name: asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
OMIM ID: 605481
Chromosome location: 1q31.3

Mutations

Disease/PhenotypeMicrocephaly, primary autosomal recessive, 5
Reference transcriptNM_018136.4
DNA Changec.4195_4196insA
A.A. Changep.Thr1399AsnfsX20
Exon/Intronexon 18
Mutation Typeinsertion
ReferenceDesir J, Cassart M, David P, Van Bogaert P, Abramowicz M.Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.
Am J Med Genet A. 2008 Jun 1;146A(11):1439-43.