Variant: rs141488085 

    present in Gene: CENPE
    present in Chromosome: 4
    Position on Chromosome: 103147427
    Alleles of this Variant: T/C

rs141488085 in CENPE gene and MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE PMID 24748105 2014 Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.