RAD21 RAD21 cohesin complex component

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 RAD21: BED file

Selected References

1. Deardorff, M. A., Wilde, J. J., Albrecht, M., Dickinson, E., Tennstedt, S., Braunholz, D., Mönnich, M., Yan, Y., Xu, W., Gil-Rodríguez, M. C., Clark, D., Hakonarson, H., Halbach, S., Michelis, L. D., Rampuria, A., Rossier, E., Spranger, S., Van Maldergem, L., Lynch, S. A., … Kaiser, F. J. (2012). RAD21 Mutations Cause a Human Cohesinopathy. The American Journal of Human Genetics, 90(6), 1014–1027. https://doi.org/10.1016/j.ajhg.2012.04.019 DOI:10.1016/j.ajhg.2012.04.019 PMID:22633399
2. Boyle, M. I., Jespersgaard, C., Nazaryan, L., Bisgaard, A.-M., & Tümer, Z. (2016). A novelRAD21variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. Clinical Genetics, 91(4), 647–649. Portico. https://doi.org/10.1111/cge.12863 DOI:10.1111/cge.12863 PMID:27882533