Variant: rs397509391 

    present in Gene: DNMT1
    present in Chromosome: 19
    Position on Chromosome: 10154602
    Alleles of this Variant: C/A

rs397509391 in DNMT1 gene and CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT PMID 22328086 2012 Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds.