Variant: rs1569249386 

    present in Gene: PCNT
    present in Chromosome: 21
    Position on Chromosome: 46397414
    Alleles of this Variant: C/T

rs1569249386 in PCNT gene and Microcephalic Osteodysplastic Primordial Dwarfism, Type II PMID 19643772 2010 Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.