Variant: rs587777161

present in Gene: CLCN4 present in Chromosome: X Position on Chromosome: 10213734 Alleles of this Variant: G/A;C

rs587777161 in CLCN4 gene and MENTAL RETARDATION, X-LINKED 15 PMID 23647072 2013 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

rs587777161 in CLCN4 gene and Poor school performance PMID 27550844 2018 De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.