N220Y (p.Asn220Tyr) variant of NF2 (Merlin)
N220Y (p.Asn220Tyr) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The record also includes published literature and structural context.
N220Y (p.Asn220Tyr) variant details
- p.Asn220Tyr
- rs1601618646
- ClinGen CA411143099
- ClinVar RCV000796728
- ClinVar RCV001578021
- Pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- ClinVar: Pathogenic (not provided; Hereditary cancer-predisposing syndrome; Neurofibr)
- EBI: Pathogenic (in SWNV)
- UniProt: Pathogenic (in SWNV)
- Structural context available
- Cited in: DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. (PMID 8230593)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)