D7N (p.Asp7Asn) variant of JPH2 (Junctophilin-2)
D7N (p.Asp7Asn) in JPH2 (Junctophilin-2) is a missense change. The record also includes structural context.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- cosmic curated COSV10590
- Ensembl rs1600483312
- Missense
- Structural context available