D75N (p.Asp75Asn) variant of USH1C (Harmonin)
D75N (p.Asp75Asn) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
D75N (p.Asp75Asn) variant details
- p.Asp75Asn
- cosmic curated COSV10499
- Ensembl rs868058857
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.036