Variant: rs1293246328 

    present in Gene: ASH1L
    present in Chromosome: 1
    Position on Chromosome: 155480700
    Alleles of this Variant: C/A

rs1293246328 in ASH1L gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 28394464 2017 Novel MCA/ID syndrome with ASH1L mutation.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.