G1277R (p.Gly1277Arg) variant of NF1 (Neurofibromin)
G1277R (p.Gly1277Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1. The record also includes structural context.
G1277R (p.Gly1277Arg) variant details
- p.Gly1277Arg
- Ensembl rs2151437990
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- UniProt: Likely pathogenic
- Structural context available