Variant: rs1131691646 

    present in Gene: PCDH19
    present in Chromosome: X
    Position on Chromosome: 100407077
    Alleles of this Variant: G/-;GG

rs1131691646 in PCDH19 gene and EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) PMID 22946748 2012 Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

PMID 20713952 2010 Protocadherin 19 mutations in girls with infantile-onset epilepsy.