Variant: rs104894917 

    present in Gene: PHF6
    present in Chromosome: X
    Position on Chromosome: 134413937
    Alleles of this Variant: A/G

rs104894917 in PHF6 gene and Borjeson-Forssman-Lehmann syndrome PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 23229552 2013 PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.