CHD4 chromodomain helicase DNA binding protein 4

Gene info

Disease info

Animal model

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 CHD4: BED file

Selected References

1. Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., Abdul-Khaliq, H., Banka, S., Bauer, U. M. M., Bentham, J., Berger, F., … Bhattacharya, S. (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060–1065. https://doi.org/10.1038/ng.3627 DOI:10.1038/ng.3627 PMID:27479907
2. Weiss, K., Lazar, H. P., Kurolap, A., Martinez, A. F., Paperna, T., Cohen, L., Smeland, M. F., Whalen, S., Heide, S., Keren, B., Terhal, P., Irving, M., Takaku, M., Roberts, J. D., Petrovich, R. M., Schrier Vergano, S. A., Kenney, A., Hove, H., DeChene, E., … Lachlan, K. (2020). The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis. Genetics in Medicine, 22(2), 389–397. https://doi.org/10.1038/s41436-019-0612-0 DOI:10.1038/s41436-019-0612-0 PMID:31388190