ACVR1 activin A receptor type 1

Gene info



Previous symbol


External ID

HGNC: 171
Entrez Gene: 90
Ensembl: ENSG00000115170
UCSC: uc010fog.3
OMIM: 102576
UniProtKB: Q04771

Disease info



CHD Phenotype

  • Atrial septal defect
  • Atrioventricular septal defect
  • Transposition of the great arteries
  • Double outlet right ventricle

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mouse with neural crest-specific conditional deletion has CHD; mutated RNA injected into zebrafish leads to CHD


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 ACVR1: BED file

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Selected References

  1. Smith, K. A., Joziasse, I. C., Chocron, S., van Dinther, M., Guryev, V., Verhoeven, M. C., Rehmann, H., van der Smagt, J. J., Doevendans, P. A., Cuppen, E., Mulder, B. J., ten Dijke, P., & Bakkers, J. (2009). Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects. Circulation, 119(24), 3062–3069. DOI:10.1161/CIRCULATIONAHA.108.843714 PMID:19506109
  2. Joziasse, I. C., Smith, K. A., Chocron, S., van Dinther, M., Guryev, V., van de Smagt, J. J., Cuppen, E., ten Dijke, P., Mulder, B. J., Maslen, C. L., Reshey, B., Doevendans, P. A., & Bakkers, J. (2011). ALK2 mutation in a patient with Down’s syndrome and a congenital heart defect. European Journal of Human Genetics, 19(4), 389–393. DOI:10.1038/ejhg.2010.224 PMID:21248739