Variant: rs1057521927 

    present in Gene: PRUNE1
    present in Chromosome: 1
    Position on Chromosome: 151017860
    Alleles of this Variant: G/A

rs1057521927 in PRUNE1 gene and NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

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

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