D118Y (p.Asp118Tyr) variant of NEB (Nebulin)
D118Y (p.Asp118Tyr) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nemaline myopathy 2. The record also includes published literature.
D118Y (p.Asp118Tyr) variant details
- p.Asp118Tyr
- rs2552279986
- ClinGen CA348793642
- ClinVar RCV002811904
- Uncertain significance
- Nemaline myopathy 2
- Missense
- ClinVar: Uncertain significance (Nemaline myopathy 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)