TGFBR1 transforming growth factor beta receptor 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

Download annotation file for TGFBR1: BED file

Selected References

1. Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, A., Schmidtke, J., & Arslan-Kirchner, M. (2006). TGFBR1andTGFBR2mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Human Mutation, 27(8), 770–777. https://doi.org/10.1002/humu.20354 DOI:10.1002/humu.20354 PMID:16799921
2. Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., Meyers, J., Leitch, C. C., Katsanis, N., Sharifi, N., Xu, F. L., Myers, L. A., Spevak, P. J., Cameron, D. E., Backer, J. D., Hellemans, J., Chen, Y., Davis, E. C., Webb, C. L., … Dietz, H. C. (2005). A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics, 37(3), 275–281. https://doi.org/10.1038/ng1511 DOI:10.1038/ng1511 PMID:15731757