NF1 neurofibromin 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 NF1: BED file

Selected References

1. De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, B., Pizzuti, A., Digilio, M. C., Tartaglia, M., & Dallapiccola, B. (2005). NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome. The American Journal of Human Genetics, 77(6), 1092–1101. https://doi.org/10.1086/498454 DOI:10.1086/498454 PMID:16380919
2. Baralle, D., Mattocks, C., Kalidas, K., Elmslie, F., Whittaker, J., Lees, M., Ragge, N., Patton, M. A., Winter, R. M., & ffrench-Constant, C. (2003). Different mutations in theNF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). American Journal of Medical Genetics, 119A(1), 1–8. https://doi.org/10.1002/ajmg.a.20023 DOI:10.1002/ajmg.a.20023 PMID:12707950
3. Nyström, A., Ekvall, S., Allanson, J., Edeby, C., Elinder, M., Holmström, G., Bondeson, M., & Annerén, G. (2009). Noonan syndrome and neurofibromatosis type I in a family with a novel mutation inNF1. Clinical Genetics, 76(6), 524–534. https://doi.org/10.1111/j.1399-0004.2009.01233.x DOI:10.1111/j.1399-0004.2009.01233.x PMID:19845691