R3X variant of USH1C (Harmonin)
R3X in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as conflicting interpretations. The record also includes structural context.
R3X variant details
- rs876657624
- Conflicting interpretations
- Missense
- EBI: ['pathogenic', 'likely-benign']
- UniProt: Pathogenic
- Structural context available