Variant: rs1553253812 

    present in Gene: PRUNE1
    present in Chromosome: 1
    Position on Chromosome: 151025654
    Alleles of this Variant: G/-

rs1553253812 in PRUNE1 gene and Muscle hypotonia PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 28334956 2017 PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

PMID 28211990 2017 Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.