R3G (p.Arg3Gly) variant of USH1C (Harmonin)
R3G (p.Arg3Gly) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- cosmic curated COSV50024
- TOPMed rs876657624
- gnomAD rs876657624
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.0922