L1104R (p.Leu1104Arg) variant of NF1 (Neurofibromin)
L1104R (p.Leu1104Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Neurofibromatosis, type 1. The record also includes structural context.
L1104R (p.Leu1104Arg) variant details
- p.Leu1104Arg
- NCI-TCGA Cosmic COSV6220
- cosmic curated COSV62209
- Pathogenic/Likely pathogenic
- not provided; Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neurofibromatosis, type 1)
- UniProt: Likely pathogenic
- Structural context available