CLN3

Gene name: ceroid-lipofuscinosis, neuronal 3
OMIM ID: 607042
Chromosome location: 16p11.2

Mutations

Disease/Phenotype	Ceroid lipofuscinosis, neuronal, 3
DNA Change	29kb deletion
A.A. Change
Exon/Intron
Mutation Type	deletion
Reference	Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH.Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). Am J Hum Genet. 1995 Mar;56(3):663-8.

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  Variant not named according to HGVS recommendations