Variant: rs122460159 

    present in Gene: CDKL5
    present in Chromosome: X
    Position on Chromosome: 18564496
    Alleles of this Variant: C/T

rs122460159 in CDKL5 gene and Cyclin-dependent kinase-like 5 deficiency PMID 19793311 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

PMID 27848944 2017 Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

PMID 25819767 2015 Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.

PMID 17993579 2008 Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

PMID 22678952 2012 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

PMID 19780792 2010 Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.