K109* (p.Lys109Ter) variant of DNAH5 (Dynein axonemal heavy chain 5)
K109* (p.Lys109Ter) in DNAH5 (Dynein axonemal heavy chain 5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K109* (p.Lys109Ter) variant details
- p.Lys109Ter
- rs2547160581
- ClinGen CA359224062
- ClinVar RCV003539000
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)