Variant: rs1060505041 

    present in Gene: NACC1
    present in Chromosome: 19
    Position on Chromosome: 13136099
    Alleles of this Variant: C/A;T

rs1060505041 in NACC1 gene and Muscle hypotonia PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28132692 2017 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

rs1060505041 in NACC1 gene and NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION PMID 28132692 2017 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.