ACTC1 actin alpha cardiac muscle 1
Gene info
Synonyms
CMD1R
Previous symbol
ACTC
External ID
HGNC: 143
Entrez Gene: 70
Ensembl: ENSG00000159251
UCSC: uc001ziu.2
OMIM:
102540
UniProtKB:
P68032
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
Extra Cardiac Phenotype
cleft palate
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Homozygous null mouse has CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for ACTC1: BED file
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Selected References
- 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 PMID:10966831
- 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
- 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