NSD1 nuclear receptor binding SET domain protein 1

Gene info


ARA267, FLJ22263, KMT3B

Previous symbol


External ID

HGNC: 14234
Entrez Gene: 64324
Ensembl: ENSG00000165671
UCSC: uc003mfr.5
OMIM: 606681
UniProtKB: Q96L73

Disease info


CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Patent foramen ovale
  • Bicuspid aortic valve
  • Pulmonic stenosis
  • Ebstein's anomaly

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for NSD1: BED file

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Selected References

  1. Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Türkmen, S., Cormier-Daire, V., Irrthum, A., & Rahman, N. (2005). Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations. The American Journal of Human Genetics, 77(2), 193–204. https://doi.org/10.1086/432082 DOI:10.1086/432082 PMID:15942875