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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