Gene entry
DNMT3B
DNA methyltransferase 3 beta
- Chromosome
- 20
- Cytoband
- 20q11.21
- Variants (rsID)
- 14
DNMT3B is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q11.21). Its official name is “DNA methyltransferase 3 beta”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs150682895Benignsingle nucleotide variantImmunodeficiency-centromeric instability-facial anomalies syndrome 1|Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- rs2424932Benignsingle nucleotide variantImmunodeficiency-centromeric instability-facial anomalies syndrome 1
- rs121908940Conflicting interpretationssingle nucleotide variantImmunodeficiency-centromeric instability-facial anomalies syndrome 1|Non-obstructive azoospermia
- rs121908941Pathogenicsingle nucleotide variantCentromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- rs121908946Pathogenicsingle nucleotide variantImmunodeficiency-centromeric instability-facial anomalies syndrome 1
- rs151128145Uncertain significancesingle nucleotide variantImmunodeficiency-centromeric instability-facial anomalies syndrome 1|Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- rs35846833Uncertain significancesingle nucleotide variantCentromeric instability of chromosomes 1,9 and 16 and immunodeficiency|Immunodeficiency-centromeric instability-facial anomalies syndrome 1|See cases
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.