Variant: rs137852817 

    present in Gene: CASK
    present in Chromosome: X
    Position on Chromosome: 41660468
    Alleles of this Variant: A/G

rs137852817 in CASK gene and Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia PMID 19165920 2008 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.