Variant: rs145873635 

    present in Gene: ASAH1
    present in Chromosome: 8
    Position on Chromosome: 18075541
    Alleles of this Variant: G/A

rs145873635 in ASAH1 gene and Jankovic Rivera syndrome PMID 27026573 2016 ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

PMID 22703880 2012 Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

PMID 24164096 2014 Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.