Variant: rs386834124 

    present in Gene: CLN8
    present in Chromosome: 8
    Position on Chromosome: 1771263
    Alleles of this Variant: G/A

rs386834124 in CLN8 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 8 PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 26443629 2016 Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

PMID 19807737 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

PMID 19431184 2009 A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

PMID 15024724 2004 Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

PMID 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

PMID 16570191 2006 Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

rs386834124 in CLN8 gene and Dysmorphic features PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

rs386834124 in CLN8 gene and Movement Disorders PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

rs386834124 in CLN8 gene and Muscle hypotonia PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.