Q35* (p.Gln35Ter) variant of USH1C (Harmonin)
Q35* (p.Gln35Ter) in USH1C (Harmonin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
Q35* (p.Gln35Ter) variant details
- p.Gln35Ter
- TOPMed rs1477925627
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.895