CFAP53 cilia and flagella associated protein 53

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

No variant passing our criteria was found for CFAP53.

Selected References

1. Perles, Z., Cinnamon, Y., Ta-Shma, A., Shaag, A., Einbinder, T., Rein, A. J. J. T., & Elpeleg, O. (2012). A human laterality disorder associated with recessiveCCDC11mutation. Journal of Medical Genetics, 49(6), 386–390. https://doi.org/10.1136/jmedgenet-2011-100457 DOI:10.1136/jmedgenet-2011-100457 PMID:22577226
2. Narasimhan, V., Hjeij, R., Vij, S., Loges, N. T., Wallmeier, J., Koerner-Rettberg, C., Werner, C., Thamilselvam, S. K., Boey, A., Choksi, S. P., Pennekamp, P., Roy, S., & Omran, H. (2015). Mutations in CCDC11 , which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left-Right Organizer. Human Mutation, 36(3), 307–318. Portico. https://doi.org/10.1002/humu.22738 DOI:10.1002/humu.22738 PMID:25504577