Variant: rs1553251507

present in Gene: MINDY1;PRUNE1 present in Chromosome: 1 Position on Chromosome: 151008634 Alleles of this Variant: -/GGAGG

rs1553251507 in MINDY1;PRUNE1 gene and Muscle hypotonia PMID 28334956 2017 PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

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

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

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.