D3990A (p.Asp3990Ala) variant of NEB (Nebulin)
D3990A (p.Asp3990Ala) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nemaline myopathy 2. The record also includes published literature.
D3990A (p.Asp3990Ala) variant details
- p.Asp3990Ala
- rs2552227842
- ClinGen CA348778098
- ClinVar RCV003154285
- Likely pathogenic
- Nemaline myopathy 2
- Missense
- ClinVar: Likely pathogenic (Nemaline myopathy 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)