I26T (p.Ile26Thr) variant of NF2 (Merlin)
I26T (p.Ile26Thr) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Neurofibromatosis, type 2. The record also includes published literature and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- rs1064795612
- ClinGen CA16621093
- ClinVar RCV000480221
- ClinVar RCV002526623
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Neurofibromatosis, type 2
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; 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)