C47* (p.Cys47Ter) variant of DNAH5 (Dynein axonemal heavy chain 5)
C47* (p.Cys47Ter) in DNAH5 (Dynein axonemal heavy chain 5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C47* (p.Cys47Ter) variant details
- p.Cys47Ter
- rs2547182728
- ClinGen CA359230001
- ClinVar RCV002309359
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)