Variant: rs1366421988 

    present in Gene: CLN8
    present in Chromosome: 8
    Position on Chromosome: 1771146
    Alleles of this Variant: G/A;T

rs1366421988 in CLN8 gene and Dysmorphic features PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

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

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

rs1366421988 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 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

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