I117N (p.Ile117Asn) variant of NF1 (Neurofibromin)
I117N (p.Ile117Asn) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 1. The record also includes structural context.
I117N (p.Ile117Asn) variant details
- p.Ile117Asn
- Ensembl rs199474731
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Likely pathogenic (in NF1)
- UniProt: Likely pathogenic (in NF1)
- Structural context available