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Table 3 Missense DNMT1 variants identified in BWS cases with LOM at KCNQ1OT1 TSS-DMR

From: Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

SNV ID Base change NM_001130823.1 AA change NP_001124295 Location NM_001130823.1 Ch37/Hg19 location BWS VAF dbSNP147 VAF VEP
Rs 61750053 c.206G>A p.Arg69His Exon 3/41 Chr19:10291473 0.009 0.0089 Moderate
Rs 2228612 c.979A>G p.Ile327Val Exon 13/41 Chr19:10273372 0.11 0.135 Moderate
Rs 138841970 c.406C>T p.Arg136Cys Exon 4/41 Chr19:10291065 0.009 0.00028 Moderate
Rs 150331990 c.3353A>G p.His1118Arg Exon 31/41 Chr19:10251822 0.009 0.00001 Moderate
Rs 757460628 c.3668G>A p.Arg1223His Exon 33/41 Chr19:10250860 0.009 0.00002 Moderate
  1. Variant allele frequencies were derived from dbSNP147. The variant effect predictor (VEP) tool was used to ascertain effects on protein function.
  2. VAF variant allele frequency