F11C (p.Phe11Cys) variant of NF2 (Merlin)
F11C (p.Phe11Cys) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
F11C (p.Phe11Cys) variant details
- p.Phe11Cys
- rs2064714417
- ClinGen CA411145860
- ClinVar RCV001337461
- ClinVar RCV003294321
- Uncertain significance
- Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Neurofibromatosis, type 2; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)