N36I (p.Asn36Ile) variant of NF2 (Merlin)
N36I (p.Asn36Ile) 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 population frequency data, published literature, and structural context.
N36I (p.Asn36Ile) variant details
- p.Asn36Ile
- rs372279458
- ClinGen CA411146303
- ClinVar RCV001009871
- ClinVar RCV006464978
- 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
- Population evidence available
- 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)