ACTC1 actin alpha cardiac muscle 1

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

Selected References

1. Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., & Fananapazir, L. (2000). Inherited and de novo Mutations in the Cardiac Actin Gene Cause Hypertrophic Cardiomyopathy. Journal of Molecular and Cellular Cardiology, 32(9), 1687–1694. https://doi.org/10.1006/jmcc.2000.1204 DOI:10.1006/jmcc.2000.1204
2. Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., & Castro-Beiras, A. (2007). Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. European Heart Journal, 28(16), 1953–1961. https://doi.org/10.1093/eurheartj/ehm239 DOI:10.1093/eurheartj/ehm239 PMID:17611253
3. Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegårdh, J., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., Granados-Riveron, J., Pope, M., Bu’Lock, F., Cox, J., Robinson, T. E., Song, F., Brook, D. J., Marston, S., Trybus, K. M., & Dahl, N. (2007). Alpha-cardiac actin mutations produce atrial septal defects. Human Molecular Genetics, 17(2), 256–265. https://doi.org/10.1093/hmg/ddm302 DOI:10.1093/hmg/ddm302 PMID:17947298