AFF4 AF4/FMR2 family member 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 AFF4: BED file

Selected References

1. Izumi, K., Nakato, R., Zhang, Z., Edmondson, A. C., Noon, S., Dulik, M. C., Rajagopalan, R., Venditti, C. P., Gripp, K., Samanich, J., Zackai, E. H., Deardorff, M. A., Clark, D., Allen, J. L., Dorsett, D., Misulovin, Z., Komata, M., Bando, M., Kaur, M., … Krantz, I. D. (2015). Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nature Genetics, 47(4), 338–344. https://doi.org/10.1038/ng.3229 DOI:10.1038/ng.3229 PMID:25730767
2. Raible, S. E., Mehta, D., Bettale, C., Fiordaliso, S., Kaur, M., Medne, L., Rio, M., Haan, E., White, S. M., Cusmano‐Ozog, K., Nishi, E., Guo, Y., Wu, H., Shi, X., Zhao, Q., Zhang, X., Lei, Q., Lu, A., He, X., … Izumi, K. (2019). Clinical and molecular spectrum of CHOPS syndrome. American Journal of Medical Genetics Part A. Portico. https://doi.org/10.1002/ajmg.a.61174 DOI:10.1002/ajmg.a.61174 PMID:31058441