Variant: rs387907043 

    present in Gene: DNAJC5
    present in Chromosome: 20
    Position on Chromosome: 63930873
    Alleles of this Variant: T/A;G

rs387907043 in DNAJC5 gene and Ceroid Lipofuscinosis, Neuronal, Parry Type PMID 22235333 2012 Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

PMID 21820099 2011 Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

PMID 22073189 2011 Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

PMID 22978711 2013 Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

PMID 22902780 2012 Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.