Y1680C (p.Tyr1680Cys) variant of NEB (Nebulin)
Y1680C (p.Tyr1680Cys) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Nemaline myopathy.
Y1680C (p.Tyr1680Cys) variant details
- p.Tyr1680Cys
- rs2552257876
- ClinVar RCV004587634
- ClinVar RCV005422486
- Likely pathogenic
- not provided; Nemaline myopathy
- Missense
- ClinVar: Likely pathogenic (not provided; Nemaline myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic