D30N (p.Asp30Asn) variant of NF2 (Merlin)
D30N (p.Asp30Asn) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The record also includes published literature and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- rs1601516058
- ClinGen CA411146184
- ClinVar RCV001018483
- ClinVar RCV004773224
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Neurofibr)
- 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)