D134G (p.Asp134Gly) variant of DNAH5 (Dynein axonemal heavy chain 5)
D134G (p.Asp134Gly) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The record also includes published literature and structural context.
D134G (p.Asp134Gly) variant details
- p.Asp134Gly
- rs2547160038
- ClinGen CA359223672
- ClinVar RCV002587993
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)