Y13* (p.Tyr13Ter) variant of NEB (Nebulin)
Y13* (p.Tyr13Ter) in NEB (Nebulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and published literature.
Y13* (p.Tyr13Ter) variant details
- p.Tyr13Ter
- rs2552280866
- ClinGen CA348797063
- ClinVar RCV003515820
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- NEB SH3 domain domainome 1.0: score -0.688
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)