CHD4 chromodomain helicase DNA binding protein 4

Gene info

Synonyms

Mi-2b, Mi2-BETA

Previous symbol

None

External ID

HGNC: 1919
Entrez Gene: 1108
Ensembl: ENSG00000111642
UCSC: uc001qpo.4
OMIM: 603277
UniProtKB: Q14839

Disease info

CHD Phenotype

  • Atrial septal defect
  • Coarctation of the aorta
  • Tetralogy of fallot
  • Ventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

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 CHD4: BED file

Genome browser powered by igv.js

Selected References

  1. Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., … Singh, T. (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060–1065. DOI:10.1038/ng.3627 PMID:27479907