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

IER3IP1

Gene name: immediate early response 3 interacting protein 1
OMIM ID: 609382
Chromosome location: 18q21.1

Mutations

Disease/PhenotypeMicrocephaly, epilepsy, and diabetes syndrome
Reference transcriptNM_016097.4
DNA Changec.62T>G
A.A. ChangeVal21Gly
Exon/Intronexon 1
Mutation Typesubstitution
ReferencePoulton CJ, Schot R, Kia SK, Jones M, Verheijen FW, Venselaar H, de Wit MC, de Graaff E, Bertoli-Avella AM, Mancini GM.Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.
Am J Hum Genet. 2011 Aug 12;89(2):265-76.