Variant: rs878854416 

    present in Gene: HECW2
    present in Chromosome: 2
    Position on Chromosome: 196242162
    Alleles of this Variant: C/T

rs878854416 in HECW2 gene and NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.