CDK13 cyclin dependent kinase 13

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 CDK13: BED file

Selected References

1. Sanchez-Castro, M., Eldjouzi, H., Charpentier, E., Busson, P.-F., Hauet, Q., Lindenbaum, P., Delasalle-Guyomarch, B., Baudry, A., Pichon, O., Pascal, C., Lefort, B., Bajolle, F., Pezard, P., Schott, J.-J., Dina, C., Redon, R., Gournay, V., Bonnet, D., & Le Caignec, C. (2016). Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. Circulation: Cardiovascular Genetics, 9(1), 86–94. https://doi.org/10.1161/circgenetics.115.001213 DOI:10.1161/CIRCGENETICS.115.001213 PMID:26643481
2. 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